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Clinical signs of Patau syndrome: a. cleft lip and palate; b. anophthalmia and microphtalmia, flattened nasal root; c. scalp defect; d. hand postaxial polydactyly; d. foot postaxial polydactyly
Source publication
Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly. Most frequent cytogenetic abnormality is free and homogeneous trisomy 13 (80.0%), rarely being detected trisomy mosaics or Robertsonian translocations. The objective of...
Contexts in source publication
Context 1
... clinical elements that supported the clinical diagnosis of Patau syndrome (tab. I, fig. 1) were: abnormal ears (11 cases), cardi- ac abnormalities (10 cases), flattened nasal root (10 cases), ocular abnormalities -mi- crophthalmia, anophthalmia, cyclopia -(8 cases), polydactyly (7 cases), cleft lip/palate (6 cases), scalp abnormalities (6 cases). Alt- hough the clinical diagnosis of Patau syn- drome is supported by the ...
Citations
... About 50% of the pregnancies diagnosed with Patau syndrome in the first trimester will end naturally as miscarriages, and another significant percentage are electively terminated by parent's decision [5]. Cardiac defects are the most common ultrasonogra-phy finding of fetuses affected by this syndrome, followed by central nervous system anomalies as holoprosencephaly associating craniofacial dysmorphism: cleft lip and palate, impaired nose development, microphtamlia or anophtalmia, microcephaly; cystic kidneys, intrauterine growth restriction, limb abnormalities and cryptorchidism in males or bicornuate uterus in females can also be noticed [6,7]. ...
We report a near term live birth of a child prenatally diagnosed with Patau’s syndrome, rare case reaching this gestational age. Despite the acknowledgement of the poor fetal prognostic the parents chose to accept the natural course of the affected pregnancy, decision based on religious considerations. Alobar subtype of holoprosencephaly associating facial dysmorphism along with severe cardiac and limb defects and ambiguous genitalia were the main ultrasonographic and clinical findings. We describe a particular phonotypical association for a full aneuploidy that have been early prenatal diagnosed.
... The combination of holoprosencephaly, cyclopia, proboscis, cutaneous scalp defect, and omphalocele (Figs. 4.8 and 4.9) is pathognomonic for Patau syndrome [12]. Frequent extraocular manifestations are holoprosencephaly (see Fig. 4 Table 4.1), coloboma (50%), persistent hyperplastic primary vitreous (PHPV), often with associated chondroid metaplasia (see Fig. 4.11b), and retinal dysplasia (55%) (see Fig. 4.11a and 4.14). ...
The knowledge of syndromic eye abnormalities is of central importance for the correlation of different combinations of malformations of the eye and other organs in order to determine an exact syndrome diagnosis in spontaneous abortions, pregnancy terminations, and neonates born with multiple congenital malformations. An exact diagnosis not only can provide prognostic information for the index case but also may be helpful in determining the risks for future pregnancies of the same parents. Syndromes may be the result of gross chromosomal abnormalities such as triploidy, trisomy, or monosomy, with a low risk for repeat pregnancy. The detection of monogenic heritable syndromes may offer the possibility of prenatal testing of future offspring. Known malformation sequences of unknown genetic cause also may be characterized by particular ocular anomalies.
... 5 Patau syndrome is characterized with three cardinal signs: lip or cleft palate, microphtalmia, and postaxial polydactyly. 1,2,11 Other than that, other signs that can be found is scalp defect, holoprocenphaly, congenital heart disease, ear disorder, nose disorder, and severe intelectual development deficiency. 12 Commonly, the most severe manifestation of Patau syndrome is holoprocencephaly which can affect the brain (one cerebri hemisphere, cerebri ventricle, corpus calosum agenesis), ocular structure (microphtalmia.anopthalmia ...
... or cyclopia) and frontal bud (proboscis, hipertelorism, velopalatine median cleft). 11 Several congenital heart diseases which is often seen in these trisomy are ventricular septal defect, patent ductus arteriosus, and atrial septal defect. The abnormalities of the eye include micropthalmia, coloboma iris, retina dysplasia, and helics auricle abnormality. ...
Trisomy 13 (Patau syndrome) is cytogenetically classified as a 47,XY,+13 or 47,XX,+13, due to nondisjunction at meiosis I or II, or at mitosis (mosaicism), and partial trisomy due to translocation. Patau syndrome is one of the most common chromosomal anomalies with an estimated incidence of about 1/10,000 births characterized by the presence of cleft lip and/or palate, post axial polydactyly, low set ears, rocker-bottom feet, cryptorchidism, and congenital heart disease. This was a case report of a newborn baby in Dr. Hasan Sadikin General Hospital Bandung in January 2016 with translocation of chromosome 13 segment to chromosome 18 or 47,XY,+13,t(13:18). Abstrak Trisomi 13 (sindrom Patau) secara sitogenetik diklasifikasikan 47,XY,+13 atau 47,XX,+13, disebabkan oleh kegagalan pemisahan pada meiosis I atau II, atau pada mitosis (mosaicism) dan trisomi parsial yang disebabkan oleh translokasi. Sindrom Patau merupakan salah satu anomali kromosom yang paling sering dengan insidensi sekitar 1/10.000 kelahiran, dengan karakteristik fenotipe seperti celah bibir dan atau celah langit-langit, postaxial polydactyly, low set ears, rocker bottom feet, kriptokismus, serta kelainan jantung kongenital. Dilaporkan kasus sindrom Patau pada bayi baru lahir di Rumah Sakit Dr. Hasan Sadikin Bandung pada Januari 2016 yang menunjukkan segmen dari kromosom 13 translokasi ke kromosom 18 atau 47,XY,+13,t(13:18). Kata kunci: Sindrom patau, Trisomi 13, translokasi MKB. 51(3):185-8 https://doi.
... Somatic findings: Major clinical features include low birth weight, developmental delay, facial dysmorphic features (cleft lip and palate, microphthalmia/anophthalmia, broad nasal root, and scalp defects), and congenital heart anomalies. 39 Overlapping fingers and rocker-bottom feet are also described. ...
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.
... Trisomy 13 has an incidence of 1 in 10,000-20,000 with variable expression and is characterized by the clinical triad of cleft lip and palate, microphthalmia/ anophthalmia, and postaxial polydactyly. 3 However, other anomalies are frequently associated. 4,5 The objective of this report is to describe a Congolese newborn presenting with a sacrococcygeal teratoma and the clinical features of trisomy 13. ...
... Two signs of the characteristic clinical triad were present in our patient (cleft lip and palate and microphthalmia/anophthalmia), but no postaxial polydactyly has been observed. 3 Table 1 shows clinical features in trisomy 13 with molecular confirmation versus our patient. [7][8][9][10][11] As we can see in Table 1 as well as in Caba et al's paper, full classical triad of trisomy 13 is not constant, which is an indirect evidence supporting the argument that our patient likely had trisomy 13. 3 Whereas in most industrialized countries, trisomy 13 is diagnosed prenatally, 12 ∼24% of pregnant women have no access to prenatal care services, and the vast majority of them currently do not have access to prenatal ultrasound follow-up in the Democratic Republic of Congo. ...
... 3 Table 1 shows clinical features in trisomy 13 with molecular confirmation versus our patient. [7][8][9][10][11] As we can see in Table 1 as well as in Caba et al's paper, full classical triad of trisomy 13 is not constant, which is an indirect evidence supporting the argument that our patient likely had trisomy 13. 3 Whereas in most industrialized countries, trisomy 13 is diagnosed prenatally, 12 ∼24% of pregnant women have no access to prenatal care services, and the vast majority of them currently do not have access to prenatal ultrasound follow-up in the Democratic Republic of Congo. 11 The identification of cell-free DNA in maternal blood and the recent development of polymerase chain reaction-based noninvasive DNA hold enormous promise for diagnosis of fetal trisomies 21, 18, and 13 in general pregnant populations. ...
Introduction
The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma.
Case presentation
We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm ×12.0 cm ×5.0 cm) with a cystic consistency and a positive transillumination.
Conclusion
This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen’s node.
... The most frequent types of malformations involve the central nervous (mainly holoprosencephaly, microcephaly, severe psychomotor delay) and cardiovascular systems (atrial septal defect or patent ductus arteriosus); that also include ocular (micro-/ano-phthalmia), orofacial (clefts, ear, and broad nasal root) and scalp defects (aplasia cutis congenita) as well as problems with the genitourinary (cystic kidneys) and skeletal systems (postaxial polydactyly of the hands or feet). [2,3] A review of the literature of T13 revealed four cases of hyperinsulinemic hypoglycemia (HH). The first case was reported in 1985 by Smith and Giacoia. ...
... Commonly, these include holoprosencephaly, microcephaly, myelomeningocele, microphthalmia or anophthalmia, hypotelorism, coloboma, retinal dysplasia, malformed and low-set ears, cleft lip, cleft palate, polydactyly, atrial and ventricular septal defects, patent ductus arteriosus, etc., Children who survive infancy have profound mental retardation and may experience seizures. [2,3] Hyperinsulinemic hypoglycemia in patients with T13 has been described in only four cases. The pathogenesis of HH in T13 is not known exactly. ...
Malformations of the eye, orbit, and adnexa are encountered in three forms. The most common are of a relatively minor nature such as colobomata of the uveal tract and minor malformations of the retina and optic nerve head and do not require treatment. The next group are amenable to surgical intervention and excised tissue may be submitted to the laboratory for investigation. Lastly, there are those in which major or minor degrees of ocular malformation are associated with severe and often lethal systemic disorders (e.g., synophthalmia, anencephaly, and gross chromosomal abnormalities such as the trisomy D group); these abnormalities may be encountered at autopsy. To understand these developmental anomalies an understanding of normal development is required.
The care of patients with trisomy 13 and 18 is a source of significant controversy. While these conditions are life limiting, indisputable data refutes the notion that these conditions are lethal or incompatible with life. Despite such evidence, arguments of beneficence, quality of life and limited resources are invoked to make the case to limit care to trisomy children. Lessons learned in our ignominious history with Down syndrome should guide us as we explore care for patients with trisomy 13 and 18. As clinicians we should strive with equipoise to carefully examine available data, the current status of practices related to care from palliation to intensive interventions, rise above our personal prejudices and listen to the voices of families imploring us to consider their opinions regarding the value of the life of a child with trisomy 13 or 18. We should recall and learn from our Down syndrome odyssey and select the road previously not taken as we chart a course to the best possible care for our trisomy 13 and 18 sisters and brothers.
Trisomy 13 syndrome is a rare disorder that carries a high mortality rate due to abnormal prenatal development resulting in serious birth defects. Although genitourinary malformations are commonly seen in trisomy 13 syndrome, to our knowledge, the association of cloacal exstrophy with trisomy 13 has been extremely rarely reported. Herein, a newborn with trisomy 13 syndrome having multiple congenital anomalies, including cloacal exstrophy, is presented, and the importance of structural anomalies of the neutrophilic leukocytes on a blood smear in supporting diagnosis of trisomy 13 is discussed.
