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Frontonasal dysplasia (Median cleft face syndrome)

Authors:
Seema Vipin Sharma at Dr Rajendra Prasad Government Medical College
Seema Vipin Sharma
Vipin Sharma at Dr Rajendra Prasad Government Medical College
Vipin Sharma
Meenakshi Bothra at All India Institute of Medical Sciences
Meenakshi Bothra
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This is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity and no family history of similar conditions. So inheritance of this case could be considered sporadic. Maxillofacial surgery should be considered for all patients for whom improvement is possible. However, in developing countries where there are considerable limitations in provision of social services, with economic and educational constraints, correction of such major defects remains a challenging task.
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Journal of Neurosciences in Rural Practice | January - April 2012 | Vol 3 | Issue 1 65
ABSTRACT
This is a report of a rare case of frontonasal dysplasia (FND) in a full-term girl with birth weight of 2.750 kg. The baby
had the classical features of FND. There were no other associated anomalies. There was no history of consanguinity
and no family history of similar conditions. So inheritance of this case could be considered sporadic. Maxillofacial
surgery should be considered for all patients for whom improvement is possible. However, in developing countries
where there are considerable limitations in provision of social services, with economic and educational constraints,
correction of such major defects remains a challenging task.
Key words:
Key words: Facial cleft, frontonasal dysplasia, hypertelorism
Seema Sharma, Vipin Sharma1, Meenakshi Bothra2
Departments of Paediatrics, and 1Orthopaedics, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra (Tanda), Himachal Pradesh,
2Department of Paediatrics, AIIMS, New Delhi, India
Frontonasal dysplasia (Median cle face syndrome)
Introduction
Frontonasal dysplasia (FND) is also known as Burian’s
syndrome or median cleft face syndrome.[1] First
recognized in the mid-nineteenth century,[1] it is a rare
condition and only about 100 cases have been reported
worldwide till 1996.[1-3] This condition is usually sporadic,
but a few familial cases have been reported.[4-7]
Case Report
A female neonate second in order of two, born out of non-
consanguineous marriage with no family history of FND
was born by LSCS. Antenatal period was uneventful.
On examination she was found to have widow’s
peak, anterior cranium bifi dum occultum; true ocular
hypertelorism; broadening of the nasal root; median
cle nose; and a median facial cle aff ecting the upper
lip and palate. There was le -sided microphthalmia
[Figure 1]. Head radiographs showed macrocephaly and
brachycephaly with dysmorphic face. Rest infantogram
was normal. Ultrasound examination of the brain
revealed absence of corpus callosum. No other congenital
anomaly was seen on gross examination. Owing to
inability to do postmortem we were unable to look for
detailed structural anomalies of central nervous system.
Baby required resuscitation a er birth and shi ed to
nursery. Genetic counseling, appropriate treatment and
prognosis were explained in detail to the parents but they
decided to give consent for do not resuscitate (DNR).
Baby died at 36 hours of life.
Discussion
In 1967, De Meyer first described the malformation
Address for correspondence:
Dr. Seema Sharma, Department of Paediatrics, H. No. 23, Type 5, Block B, Dr. Rajendra Prasad Govt. Medical College and Hospital, Kangra
(Tanda), Himachal Pradesh, India. E-mail: seema406@rediffmail.com
Access this article online
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Website:
www.ruralneuropractice.com
DOI:
10.4103/0976-3147.91947
Case Report
Figure 1: Anterior cranium bifi dum occultum
Sharma,
et al.
: Median cleft face syndrome
66 Journal of Neurosciences in Rural Practice | January - April 2012 | Vol 3 | Issue 1
complex ‘median cle face syndrome’ to emphasize the
key mid-face defects. Since then several terms have been
introduced: Frontonasal dysplasia, frontonasal syndrome,
frontonasal dysostosis, and craniofrontonasal dysplasia.
FND is a rare developmental defect of craniofacial region
where midface does not develop normally. The exact
cause of FND is not known. Several genes have been
identifi ed which exert eff ects early in embryogenesis
resulting in malformation of a specifi c structure. In
midline craniofacial development, most important
involved genes are the SHH, TGIF, GLI2, TBX22, ZIC2,
SIX3, TDGF1. TGIF mutations aff ect brain development
resulting in diff erent pa erns of cerebral and facial
manifestations. However, molecular studies are required
to prove this hypothesis.[8]
The exclusively sporadic occurrence of FND is indicative
of unlikely hereditary pathomechanism. However, in
families with an aff ected child, generally malformations
tend to occur a li le more frequently.[7] This dysmorphic
syndrome is polygenetic, because it is sometimes
inherited as a dominant and sometimes as a recessive
trait.[1] The parents of an aff ected child can expect the
risk to be 25% for the next child.[1,7,9]
The embryological origin of this syndrome is in the
period prior to the 28-mm crown-rump length stage.
During the third week of gestation two areas of thickened
ectoderm, the olfactory areas, appear immediately under
the forebrain in the anterior wall of the stomodeum,
one on either side of a region termed the frontonasal
prominence. By the up-growth of the surrounding parts
these areas are converted into pits, the olfactory pits,
which indent the frontonasal prominence and divide
it into a medial and two lateral nasal processes. FND
is due to defi cient remodelling of the nasal capsule,
which causes the future fronto-naso-ethmoidal complex
to freeze in the fetal form. Experiments show that a
reduction in the number of migrating neural crest cells
results in these multiple defects. The depth and width of
the vertical groove may vary greatly.[10] Clinical features
are variable according to severity of expression [Table 1].
The important diff erential diagnosis of FND includes
frontofacionasal dysplasia (FFND), which has ocular
defects and midface hypoplasia in addition to the
midline facial cle .[11-14] Acro-frontofacionasal dysostosis
is another disorder, which is distinguished from FND
by the presence of campto-brachy-polysyndactyly
and limb hypoplasia6. Craniofrontonasal dysplasia is
characterized by the presence of coronal synostosis,[7]
as opposed to a bifi d cranium in FND.[7] Morning glory
syndrome is primarily an uncommon isolated optic
disc anomaly, but some cranial facial and neurologic
associations have been reported.[15]
Prenatal diagnosis is important with ultrasound
observation of craniofacial anomalies (holoprosencephaly).
At birth presence of two or more of the following
symptoms is considered positive for FND: A skin-
covered gap in the bones of the forehead (anterior
cranium bifi dum occultum); hypertelorism; median cle
lip; median cle nose; and/or any abnormal development
of the center (median cleft) of the face. Diagnostic
evaluation ranges from a simple x-ray of the skull to
genetic characterization. Computed tomography is the
standard study for the evaluation of these patients.[16]
Owing to occurrence of high risk (25%) of a similar
craniofacial anomaly in the next sibling[1] genetic
counseling of the parents is an important part of the
management strategies. Cosmetic surgery to correct the
facial defects is recommended. In severe cases, additional
facial surgeries may be required. These include
reformation of the eyelids (canthoplasty), reformation
of the orbits (orbitoplasty), surgical positioning of the
eyebrows, and rhinoplasty. In FND, early and continuing
intervention programs are necessary to assist the aff ected
individual.
In conclusion, individuals diagnosed with frontonasal
dysplasia usually are of average intelligence and can
expect a normal life span. The aff ected individual may die
shortly a er birth if corrective surgery is not performed
as soon as possible. Natural history and lifespan depend
on severity and complications. Religious factors and
social customs prevent detailed postmortem examination
Table 1: Clinical features in frontonasal dysplasia
System Clinical features
Eye Hypertelorism
Forehead Widow’s peak (anterior cranium bifi dum occultum)
Nose Broad nasal root, lack of formation of nasal tip, notched nasal tip, median cleft nose with hypoplasia, absence of
prolabium and premaxilla with cleft lip
Musculoskeletal system Hallucal polydactyly, tibial aplasia
Central nervous system Absent corpus callosum, basal encephalocele and Dandy-Walker malformation[5] and mental retardation
Occasional abnormalities Accessory nasal tags, colobomas, cataracts, preauricular tags, low-set ears, conductive deafness, Tetralogy of
Fallot and median cleft lip
Sharma,
et al.
: Median cleft face syndrome
Journal of Neurosciences in Rural Practice | January - April 2012 | Vol 3 | Issue 1 67
to study the various internal malformations. This is
a severe handicap in learning and understanding the
entire spectrum of embryological and structural defects.
References
1. Fox JW, Golden GT, Edgerton MT. Frontonasal dysplasia with alar
clefts in two sisters. Genetic considerations and surgical correction. Plast
Reconstr Surg 1976;57:553-61.
2. Castroviego IP, Pascual-Pascual SI, Higueras AP. Frontonasal dysplasia
and lipoma of the corpus callosum. Eur J Pediatr 1985;144:66-71.
3. Almeida ML, Costa AR, Saavedra O, Cohen Jr MM. Frontonasal
dysplasia: Analysis of 21 cases and literature review. lnt J Oral Maxillofac
Surg 1996;25:91-7.
4. Sedano H, Cohen MM Jr, Jirasek J, Gorlin RJ. Frontonasal dysplasia. J
Pediatr 1970;76:906-13.
5. Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr.
Frontonasal dysplasia: Analysis of 21 cases and literature review. Int J
Oral Maxillofac Surg 1996;25:91-7.
6. Nevin NC, Leonard AG, Jones B. Frontonasal dysostosis in two successive
generations. Am J Med Genet 1999;87:251-3.
7. Lorenz P, Prager B, Tellkamp H. Frontonasal dysplasia: Case report and
review of the literature. Kinderarztl Prax 1990;58:415-20.
8. Richieri-Costa A, Guion-Almeida ML. The syndrome of frontonasal
dysplasia, callosal agenesis, basal encephalocele, and eye anomalies-
phenotypic and aetiological considerations. Int J Med Sci 2009;1:34-42.
9. Bader I, Khan NZ. Frontonasal dysplasia (FND) with bilateral
anophthalmia: A case report with review of literature. Pak J Med Sci
2005;21:82-4.
10. Goodman RM, Gorlin RJ. The malformed infant and child-An illustrative
guide. Oxford, England: Oxford University; 1983. p. 262.
11. Gollop TR, Kiota MM, Martins RM, Lucchesi EA, Alvarenga E.
Frontofacio nasal dysplasia: Evidence for autosomal recessive inheritence.
Am J Med Genet 1984;19:301-5.
12. Gollop TR. Fronto-facio- nasal dysostosis - A new autosomal syndrome.
Am J Med Genet 1981;10:409-12.
13. White EW, Figueroa R, Flanner y DB. Brief clinical report-frontofacionasal
dysplasia. Am J Med Genet 1991;40:338-40.
14. Orr OJ, Slaney S, Ashworth GJ, Poole MD. Cranio frontonasal, dysplasia.
Br J Plast Surg 1997;50:153-61.
15. Chen CS, David D, Hanieh A. Morning glory syndrome and basal
encephalocele. Childs Nerv Syst 2003;20:87-90.
16. Taybi H. Radiology of syndromes and metabolic disorders. Pediatric
Surgery. 2nd ed. Chicago, IL: Year Book Medical; 1983. p. 235.
How to cite this article: Sharma S, Sharma V, Bothra M. Frontonasal
dysplasia (Median cleft face syndrome). J Neurosci Rural Pract 2012;3:65-7.
Source of Support: Nil. Confl ict of Interest: None declared.
... L a displasia frontonasal (DFN), también conocida como síndrome frontonasal, disostosis frontonasal o displasia craneofrontonasal, es una malformación con específicas alteraciones a nivel craneofacial que se desarrolla por defectos en la embriogénesis de la cara. 1 Fue descrita por primera vez por DeMyer, en 1967, se trata de un defecto en la porción media facial que frecuentemente se acompaña de afecciones en los ojos, la nariz y el labio superior. 1 La etiología de la DFN es bien conocida, se trata de un padecimiento esporádico, es decir, que se manifiesta como una condición aislada sin que ésta se relacione con alguna enfermedad genética y por lo tanto no es transmisible. ...
... L a displasia frontonasal (DFN), también conocida como síndrome frontonasal, disostosis frontonasal o displasia craneofrontonasal, es una malformación con específicas alteraciones a nivel craneofacial que se desarrolla por defectos en la embriogénesis de la cara. 1 Fue descrita por primera vez por DeMyer, en 1967, se trata de un defecto en la porción media facial que frecuentemente se acompaña de afecciones en los ojos, la nariz y el labio superior. 1 La etiología de la DFN es bien conocida, se trata de un padecimiento esporádico, es decir, que se manifiesta como una condición aislada sin que ésta se relacione con alguna enfermedad genética y por lo tanto no es transmisible. O bien, puede presentarse como una manifestación de algún síndrome genético. ...
... Algunos autores vinculan a la DFN con perturbaciones en los genes asociados con el desarrollo de la cara a nivel de la línea media como SHH, TGIF, GLI2, TBX22, ZIC2, SIX3 y TDGF1. 1 El diagnóstico diferencial de la DFN es numeroso y, aunque ya se comentó que esta entidad es esporádica y no transmisible a los sucesores del paciente afectado, la DFN puede ser también una expresión sindrómica de específicas enfermedades genéticas como cefalopolisindactilia de Greig, síndrome de Opitz, síndrome de Sener, disostosis acro-fronto-facio-nasal, síndrome de hipertelorismo de Teebi, síndrome de Aarskog y de Waardenburg. 7 Sin embargo, cabe destacar que, a pesar de tratarse de entidades diferentes, por las presencia de afectaciones oculares y apéndices cutáneos, debe diferenciarse del síndrome de Goldenhar. ...
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... The condition was first identified in the mid-19th century, with its main characteristic being malformations of craniofacial organs along the midline. [6][7][8] The severity of FND can range from mild to severe forms, 9 with some patients having only soft tissue dysraphism and others exhibiting overt cranio-fronto-nasal deformities. 2,7,8,10,11 Given the nasal deformities present in FND, the pathology can involve bony, cartilaginous, and soft tissue structures. ...
... [6][7][8] The severity of FND can range from mild to severe forms, 9 with some patients having only soft tissue dysraphism and others exhibiting overt cranio-fronto-nasal deformities. 2,7,8,10,11 Given the nasal deformities present in FND, the pathology can involve bony, cartilaginous, and soft tissue structures. Broadening of the nasal bones is common, and some individuals may have nasal bone aplasia. ...
Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia
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  • J CRANIOFAC SURG
Frontonasal dysplasia (FND), a rare congenital craniofacial disorder, primarily influences the development of midline craniofacial structures. A notable manifestation of this condition is nasal hypoplasia. This report details the treatment of a 19-year-old male patient diagnosed with FND accompanied by a severe case of nasal hypoplasia. The authors used structural rhinoplasty to achieve total nasal reconstruction. Albeit with some minor sequelae, the outcome of this surgery was markedly positive, enhancing both the cosmetic appearance and functional capacity of the nose. This case underscores the effectiveness of structural rhinoplasty as a feasible therapeutic approach for individuals suffering from FND and its associated nasal hypoplasia.
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... Additionally, hallucal polydactyly and tibial aplasia. 201 CNS: Commonly involved including callosal agenesis, callosal lipoma, encephaloceles in the sphenoidal, ethmoidal, and/or occipital region, and midline intracranial calcifications. 202 Subependymal nodular heterotopia less common. ...
... 202 Subependymal nodular heterotopia less common. 201 Ulnar-mammary syndrome (OMIM: 181450) General information: Caused by mutations in TBX3, a member of the T-box gene family coding for transcription factors important in embryologic development and morphogenesis of multiple organ systems. 203 Somatic findings: Classically breast hypoplasia in females. ...
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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.
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... Frontonasal dysplasia (FND) is a rare congenital malformation also known as median cleft face syndrome, frontonasal syndrome, or frontonasal dysostosis [1]. For the diagnosis of FND, at least two of the following characteristics must be present: ocular hypertelorism, a broad nasal bridge and/or a bifid nasal tip, a widow's peak or V-shaped hair line at the forehead, and median facial cleft affecting the nose alone or both the nose and upper lip and, sometimes, the palate or anterior cranium bifidum occultum [2,3]. ...
Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review
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Background Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years. Case presentation A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND. Conclusion The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.
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... There are no documented reports of familia transmission or gender predominance (Soldanska & Taub, 2019). FND is a rare condition characterized by hypertelorism, nasal abnormalities and associated with variable midline facial defects (S. Sharma, Sharma, & Bothra, 2012). FND includes 2 or more of the following: hypertelorism, broad nasal root, median facial cleft of the upper lip or palate, clefting of the nasal alae, poorly formed nasal tip, cranium bifidum occultum and a widow's peak hairline. ...
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Background: simulation and three-dimensional visualization of object motion is a prerequisite for any surgical planning system. Orbital hypertelorism is a disease, which is most commonly associated with craniofacial malformations. We have developed a surgical planning system for planning and evaluation of orbital hypertelorism surgery. In our system CT-based virtual surface models fitted by oriented bounding boxes (OBB) are manipulated. Three-dimensional motion as well as a correction surgery can be simulated. Both are controlled by collision detection. The computer-based interactive surgery simulation systems (CISSS) presented here can take virtual surgical operation and forecast facial features after the correction of orbital hypertelorism.
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... Mutations in several genes during early embryogenesis can lead to this combination of anomalies. Remodeling defects in the nasal capsule, which ultimately forms the frontonasoethmoidal complex, are thought to cause frontonasal dysplasia during this period of embryogenesis (52). ...
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The human face is a complex anatomic structure with an equally complex embryologic development. Derangement of the developmental process can result in various structural anomalies, which range from a mainly cosmetic deformity, such as cleft lip, to potentially life-threatening conditions such as arhinia. These anomalies (a) can occur as isolated anomalies; (b) can be associated with intracranial, spinal, or dental anomalies; or (c) can be a part of various syndromes, thus serving as diagnostic clues in such cases. Proper evaluation of fetal facial deformities can help in prognostication, family counseling, and prenatal or early postnatal intervention. Ultrasonography (US) is the first line of investigation in these cases. However, when US does not allow complete evaluation of these anomalies owing to its inherent limitations, magnetic resonance (MR) imaging allows comprehensive evaluation of the anomaly itself and also evaluation of various associations and the treatment approach. The embryology of the fetal facial structures is considered with regard to the MR imaging technique and the MR imaging anatomy. The MR imaging features of various structural anomalies are described and classified into six groups, namely, orofacial clefts, orbital anomalies, nasal anomalies, facial masses, external ear anomalies, and abnormal face shape or profile. Also, the key associations and relevant treatment implications are reviewed. The article provides a "one-stop shop" review of these unique disorders-from basic understanding of the embryology to applying the knowledge in clinical practice, helping the interprofessional team and the patients alike. ©RSNA, 2018.
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Cleft 1/13
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  • Dec 2023
Cleft 1–13 is one of the three interorbital rare clefts. According to Sedano, it belongs to the spectrum of frontonasal dysplasia as the type 3 facies. It has, as a consequence, hypertelorism and nasal anomalies. It runs from the nasal aperture toward the paramedian frontal area and the ethmoidal shelf on the skull base, where it can give way to an encephalocele. In its unilateral form, it is asymmetric, but when bilateral, it becomes symmetric, confusing, and easily misdiagnosed as a cleft 0–14. For the study, we reviewed 50 patients and the data of 156 cases reported in the literature. Its path is identical to the cleft 2–12. The difference is between a clefting phenotype for cleft 1 versus a hypoplastic phenotype for cleft 2. Cleft 1 is called nasoschisis since it is an accurate paramedian nasal cleft. Mutations responsible for typic cleft 1–13 phenotype have been reported mainly on ALX1, 3, and 4.
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Frontonasal and Frontofacionasal Dysplasias. Case Report
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Full-text available
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Objective: To report two cases framed within frontonasal dysplasia spectrum, found in the outpatient dysmorphology clinic of a tertiary level hospital in the city of Cali. Materials and Methods: A literature search was done in several available medical databases, it were used the standardized terms and the search was oriented principally to the differential diagnosis of many of the diseases of the spectrum of frontonasal dysplasia. Results: We report a case of frontonasal dysplasia type 1 and a case of frontofacionasal dysplasia. These are two rare congenital anomalies, of which there are not a specific prevalence, and only there are case reports and series. They have a wide spectrum of facial malformations, including frontonasal hypoplasia and / or severe medial clefts in the nose, lips, mouth and forehead. The differential diagnosis is based on the commitment of other structures such as the skull, brain, eyes and limbs. Diagnosis is supported on clinical findings and it is made a comparation between them for a differential diagnosis, also it is decribed the embryogenic explanation of these dysplasias.
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Tooth Abnormalities and Occlusal Disorders in Individuals With Frontonasal Dysplasia
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Objective: Frontonasal dysplasia is a rare developmental defect of the midface, and little is known about the dental involvement in individuals with this condition. This study investigated tooth abnormalities and occlusal disorders in individuals with frontonasal dysplasia. Design: Cross-sectional. Setting: Public tertiary cleft/craniofacial center. Interventions: Clinical oral examination, analysis of patient records, and panoramic radiographs. Participants: A total of 20 individuals with frontonasal dysplasia aged 7 to 17 years. Main outcome measures: Prevalence of the several tooth abnormalities and occlusal disorders analyzed. Results: A total of 19 individuals presented at least one tooth abnormality, with highly variable findings. In radiographs, 20% of individuals (all presenting oral clefts) presented agenesis of lateral incisors and second premolars. No supernumerary teeth were observed; 65% of individuals exhibited occlusal alterations, especially anterior open bite in the two individuals with median cleft lip. Conclusions: Variable clinical and radiographic alterations were observed, probably due to the large variety of phenotypic characteristics. No specific dental alteration could be related with frontonasal dysplasia.
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Frontonasal dysplasia
Article
  • Jun 1970
  • J Pediatr
Frontonasal dysplasia is a nongenetic, congenital disorder in which manifestations are limited to the head. Four types of facies can be distinguished based upon embryologic considerations. Clefting of the lip and/or palate is associated with two of these facies.
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Frontonasal dysplasia (FND) with bilateral anophthalmia: A case report with review of literature
Article
  • Mar 2005
Frontonasal Dysplasia (FND) is a rare disorder characterized by deformities of variable severity affecting the craniofacial region. FND with bilateral anophthalmia has not been reported yet in the literature. Maxillofacial surgery should be considered for all patients for whom improvement is possible. But in countries like Pakistan where there are considerable limitations in provision of social services, with economic and educational constraints, correction of such major defects remains a challenging task. In this report in an infant a very severe form of frontonasal dysplasia with bilateral anophthalmia with review of literature is presented.
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Frontonasal dysplasia: Analysis of 21 cases and literature review
Article
  • May 1996
Twenty-one patients with frontonasal dysplasia were studied. A 2:1 male-to-female sex ratio and increased paternal and maternal ages at the time of conception were found. The significance is uncertain because of small sample size and lack of normal mean values for parental age in Brazil. Apparently, our series is the first to report macrocephaly (six cases). Our series also had a high frequency of patients with agenesis of the corpus callosum (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases), and mental deficiency (11 cases). Three patients had the combination of agenesis of the corpus callosum, mental deficiency, and micropenis. It is concluded that frontonasal dysplasia is pathogenetically heterogeneous, representing a regional defect which may not be a single developmental field or sequence. Causal genesis includes a dominantly inherited form, dup(2q), and autosomal recessive Shanske syndrome. Of unknown genesis are two subsets of frontonasal dysplasia patients: 1) the combination of agenesis of the corpus callosum, tibial hypoplasia, and hallucal duplication and 2) ophthalmofrontonasal dysplasia or oculoauriculofrontonasal dysplasia with associated ear tags and epibulbar dermoids.
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Frontofacionasal dysplasia
Article
  • Sep 1991
We report on the fourth case of frontofacionasal dysplasia and discuss the differential diagnosis of this autosomal recessive disorder.
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[Frontonasal dysplasia. Case report and review of the literature]
Article
  • Sep 1990
FND is a non-uniform malformation complex with symptoms ranging between severe hypertelorism with bidfid nose and cranium bidfidum occultum with agenesis of the corpus callosum. Etiology and pathogenesis are discussed on the basis of a case history and some hints regarding differential diagnosis and genetic counselling are given. The exclusively sporadic occurrence of FND tells against a hereditary pathomechanism. Consequently, there is no recurrence risk. However, in families with an affected child, malformations generally tend to occur a little more often.
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Fronto-nasal dysplasia an lipoma of the corpus callosum
Article
  • Jun 1985
A longitudinal study was performed of eight patients with fronto-nasal dysplasia. The follow-up exceeded 15 years in some patients. The eight cases showed lipoma of the corpus callosum. The only clinical alterations observed were cosmetic ones. No neurological abnormality was found, although their intellectual level was just within normal limits, the average IQ being 95, ranging from 82-103. No relationship between the IQ and the type of facies or the size of the lipoma was found. All the children presented psychological alterations, especially misanthropy and shyness. The lipoma was diagnosed by computerised tomography. Two otherwise unidentifiable small lipomas were found with this technique. Pneumoencephalography and carotid arteriography, which had been performed on nearly all the patients before CT scanning, had demonstrated some alterations. These anomalies slightly deformed the anterior portion of the lateral ventricles and anterior cerebral arteries, but a lipoma in the corpus callosum had not been considered. Only in one case was hypogenesis of the corpus callosum clearly demonstrated. The presence of an extra-osseous lipoma on the forehead and of a vertical bony bar in the intracranial midline in contact with the frontal bone are definite signs of the presence of a lipoma in the corpus callosum. The lipoma is in anterior contact with the vertical bony bar. The neurological alterations presented by the patients in this series are minor compared with those described by other authors writing of children with lipoma of the corpus callosum without FND. Because of mild clinical alteration in these children we have not considered removing the lipoma.
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Frontofacionasal dysplasia: Evidence for autosomal recessive inheritance
Article
  • Nov 1984
We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.
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