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Ocular manifestations in Edward's syndrome, a case report and literature review

Authors:
Arash Mirmohammadsadeghi at Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran
Arash Mirmohammadsadeghi
  • Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran
mohammad reza Akbari
mohammad reza Akbari
Afsaneh Malekpoor
Afsaneh Malekpoor
Afsaneh Malekpoor
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Abstract and Figures

Purpose To report a case with Edward's syndrome and ocular manifestations. Methods A three-year-old female visited our clinic. The diagnosis of Edwards Syndrome was made prior to the ophthalmic visit based on a karyotype study report. Complete ophthalmic evaluations were done for the patient. Results On the initial ophthalmic examination, bilateral ptosis, epicanthal folds, and 40 prism diopters alternate esotropia (ET) were seen. In the fundus examination, decreased red reflexes along with retinal folds, pigmentary retinopathy (patches of hyperpigmentation in the fovea and retinal periphery), and optic disc atrophy in both eyes were seen. Conclusion Our case adds some evidence to the literature that ET may be one of the classic manifestations and anomalies in trisomy 18.
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Case report
Ocular manifestations in Edward's syndrome, a case report
and literature review
Arash Mirmohammadsadeghi, Mohammad Reza Akbari, Afsaneh Malekpoor*
Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran
Received 8 December 2016; revised 3 June 2017; accepted 13 June 2017
Available online 15 July 2017
Abstract
Purpose: To report a case with Edward's syndrome and ocular manifestations.
Methods: A three-year-old female visited our clinic. The diagnosis of Edward's Syndrome was made prior to the ophthalmic visit based on a
karyotype study report. Complete ophthalmic evaluations were done for the patient.
Results: On the initial ophthalmic examination, bilateral ptosis, epicanthal folds, and 40 prism diopters alternate esotropia (ET) were seen. In the
fundus examination, decreased red reflexes along with retinal folds, pigmentary retinopathy (patches of hyperpigmentation in the fovea and
retinal periphery), and optic disc atrophy in both eyes were seen.
Conclusion: Our case adds some evidence to the literature that ET may be one of the classic manifestations and anomalies in trisomy 18.
Copyright ©2017, Iranian Society of Ophthalmology. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-
NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: Edward's syndrome; Trisomy 18; Esotropia
Introduction
Trisomy 18, also known as Edward's syndrome, is defined
as a hereditary disorder, presenting with an extra chromosome
18 in the karyotype study.
1e4
This syndrome is the second
most common autosomal disorder among live-born children
after trisomy 21. It is estimated that one in every 3000 to
10,000 live births is diagnosed with Edward's syndrome.
3e5
Of
these, less than 10% survive through the first year. As most
male infants with the disease die during pregnancy, it is
believed that most live-born children with trisomy 18 are fe-
males; thus, there is a 3:1 ratio in the prevalence of females to
males.
4e6
This syndrome affects multiple organs, leading to
neurological, cardiac, pulmonary, gastrointestinal, musculo-
skeletal manifestations.
6,7
In the present article, we reported a
three-year-old girl with ocular presentations of Edward's
syndrome as esotropia (ET), optic atrophy, and pigmentary
retinopathy.
Case report
A three-year-old female visited our clinic for ophthalmic
evaluations. She was born of a normal pregnancy with the
birth weight of 2 kg. The diagnosis of Edwards Syndrome was
made prior to the ophthalmic visit based on a karyotype study
report (Fig. 1). Low-set ears, micrognathia, prominent occiput,
and dolichocephaly were evident on observation (Fig. 2).
General physical examinations were also consistent with the
diagnosis including developmental delay and short stature.
On the initial ophthalmic examination, bilateral ptosis,
epicanthal folds, and 40 prism diopters alternate ET, measured
with Krimsky method were seen (Fig. 2). Visual acuity was
central-steady-maintain (CSM) in both eyes. There was some
limitation of abduction in versions but ocular ductions were
full in both eyes. Cycloplegic refraction was þ1.5e0.75 15
Authors obtained consent from the parents for publishing the photo.
*Corresponding author. Farabi Eye Hospital, Ghazvin Square, Iran.
E-mail address: afsaneh.malekpoor@yahoo.cam (A. Malekpoor).
Peer review under responsibility of the Iranian Society of Ophthalmology.
Available online at www.sciencedirect.com
ScienceDirect
Journal of Current Ophthalmology 29 (2017) 329e331
http://www.journals.elsevier.com/journal-of-current-ophthalmology
http://dx.doi.org/10.1016/j.joco.2017.06.005
2452-2325/Copyright ©2017, Iranian Society of Ophthalmology. Production and hosting by Elsevier B.V. This is an open access article under the CC BY-NC-ND
license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
in the right eye and þ1.25e0.5 150in the left eye. In the
fundus examination, decreased red reflexes along with retinal
folds, pigmentary retinopathy (patches of hyperpigmentation
in the fovea and retinal periphery), and optic disc atrophy in
both eyes were seen.
In order to evaluate the differential diagnosis such as in-
fectious, metabolic, and endocrine diseases, TORCH study
(anti-toxoplasma, anti-rubella, anti-cytomegalovirus, and anti-
herpes simplex virus IgG and IgM antibodies), blood amino
acids, serum lactate, and thyroid function tests had been tested
which revealed normal results. Brain MRI was normal. The
parents declined strabismus surgery.
Discussion
Edward's syndrome, as a genetic disorder, results from full,
mosaic, or partial trisomy 18q. Full trisomy 18 is the most
common form occurring in about 94% of cases.
5e7
Risk fac-
tors for the disease include a positive family history in close
relatives and rising maternal age.
7e10
Most cases in the
developed countries are diagnosed antenatally based on
screening by maternal age, maternal serum marker screening
or detection of sonographic abnormalities during second or
third trimester.
9
Antenatal diagnosis of trisomy 18 leads to
termination of pregnancy in 86% of cases.
9
The clinical pre-
sentations of Edward's syndrome are characterized by ante-
natal growth deficiency, specific craniofacial features, major
system malformations and marked psychomotor and cognitive
developmental delay.
8,9,11
Features that may be noted right
after the birth include: low birth weight, craniofacial abnor-
malities, low-set and malformed ears, micrognathia, promi-
nent occiput and dolichocephaly, small facial features, skeletal
abnormalities, congenital heart defects, gastrointestinal ab-
normalities, urogenital abnormalities, neurological problems,
and pulmonary hypoplasia.
6,8,11
The most common anomalies
of the eyes, on the other hand, usually involve the ocular
adnexae, especially eyelids and orbits (narrow palpebral fis-
sures,
10
ptosis,
10
epicanthal folds,
10
hypoplastic supraorbital
ridges,
12
punctal agenesis,
12
discontinuous eyebrows,
13
long
eyelashes with distichiasis,
13
hyper- or hypotelorism,
10
and
blepharophimosis
10
). The other reported ocular manifestations
are: microphthalmia,
14
microcornea,
14
corneal opacity,
10
Fig. 1. Chromosomal analysis of the patient showed 47 chromosomes with an extra chromosome 18 (arrow).
Fig. 2. Three-year-old girl with esotropia (ET) and Edward's syndrome.
330 A. Mirmohammadsadeghi et al. / Journal of Current Ophthalmology 29 (2017) 329e331
cataract,
10
glaucoma,
10
retinal folds,
10
absent retinal pigmen-
tation,
10
optic disc coloboma,
14
coloboma of iris, persistent
hyaloid artery,
14
optic nerve pit,
12
nystagmus,
10
anisocoria
10
and blue sclera.
13
Our case presented with some of the above manifestations
such as ptosis, epicanthal folds, and retinal folds. This case is
one of the rare reports of esotropia, retinal hyper-
pigmentations, and optic atrophy in Edward's syndrome.
Whether these findings are the result of trisomy 18 or merely an
association is unclear, and further reports are required. A 13-
year-old case of trisomy 18 with convergent strabismus (eso-
tropia) was also reported by Mehta et al.
13
Anomalous medial
rectus insertion was reported in one case in this syndrome.
10
Our case adds some evidence to the literature that ET may be
one of the classic manifestations and anomalies in trisomy 18.
References
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2012 Oct 23;7:81.
2. Shaw J. Trisomy 18: a case study. Neonatal Netw. 2008 Jan-Feb;27(1):
33e41.
3. Lin HY, Lin SP, Chen YJ, et al. Clinical characteristics and survival of
trisomy 18 in a medical center in Taipei, 1988e2004. Am J Med Genet A.
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4. Destree A, Fourneau C, Dugauquier C, Rombout S, Sartenaer D,
Gillerot Y. Prenatal diagnosis of trisomy 6 mosaicism. Prenat Diagn. 2005
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5. Qian Y, Lewis RA, Traboulsi EI. Pigmentary retinopathy is systemic
inherited disease. In: Genetic Disease of the Eye. second ed. Oxford
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6. Nagamuthu EA, Neelaveni N. Edward syndrome (Trisomy 18): a case
report. Ann Biol Res. 2014;5(3):67e72.
7. Helveston EM. Esotropia. Trans Am Ophthalmol Soc. 1988;86:441e460.
8. Esotropia. Retrieved 01.2016. American Association of Pediatrics
Ophthalmology and Strabismus on the world wide web: http://www.aapos.
org/terms/conditions/48.
9. Ginsberg J, Perrin EV, Sueoka WT. Ocular manifestations of trisomy 18.
Am J Ophthalmol. 1968;66(1):59e67.
10. Calderone JP, Chess J, Borodic G, Albert DM. Intraocular pathology of
trisomy 18 (Edwards's syndrome): report of a case and review of the
literature. Br J Ophthalmol. 1983 Mar;67(3):162e169.
11. Lim FF, Ng YY, Hu JM, Chen SJ, Su PH, Chen JY. Ocular findings in a
case of trisomy 18 with variant of Dandy-Walker syndrome. Pediatr
Neonatol. 2010 Oct;51(5):292e295.
12. Villegas VM, Chang JS, Hess DJ, Berrocal AM. Congenital optic nerve pit
in trisomy 18. J Pediatr Ophthalmol Strabismus. 2013 Jun 4;50. Online:
e24e6.
13. Mehta L, Shannon RS, Duckett DP, Young ID. Trisomy 18 in a 13 year old
girl. J Med Genet. 1986 Jun;23(3):256e257.
14. Acar DE, Acar U, Ozdemir O, Ozen ZT, Cakar ES. Microphthalmia in a
case of Edward syndrome. Semin Ophthalmol. 2014 Mar;29(2):114e117.
331A. Mirmohammadsadeghi et al. / Journal of Current Ophthalmology 29 (2017) 329e331
... Trisomy 18, also known as Edwards syndrome (Edwards et al., 1960), is characterized by the presence of an extra copy of chromosome 18, and is the most common form of autosomal trisomy in live births beside of Down syndrome (trisomy 21) (Carey, 2005;Savva et al., 2010;Cavadino and Morris, 2017). The incidence of full trisomy 18 is about 94%, compared to all types of trisomy 18 (Cereda and Carey, 2012;Mirmohammadsadeghi et al., 2017). Trisomy 18 is a severe birth defect, 80% of all trisomy 18 pregnancies results in miscarriage, almost half of trisomy 18 infants dies within the first week of life, and the majority of the remaining dies in the next 12 months (Batees and Altirkawi, 2014). ...
... Case reports have shown that craniofacial, musculoskeletal, cardiac, abdominal, and nervous systems are most likely to be affected by trisomy 18, even though many organs and tissues display defects (Cereda and Carey, 2012;Nagamuthu and Neelaveni, 2014;Roberts et al., 2016;Turbiville et al., 2017;Fan et al., 2018). Risk factors for the disease include a positive family history in close relatives and the increasing maternal age (Ginsberg et al., 1968;Calderone et al., 1983;Mirmohammadsadeghi et al., 2017). The prognosis for this genetic defect is poorly understood due to multiple system involvement (Norwitz and Levy, 2013;Imataka et al., 2016). ...
Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18
Article
Full-text available
  • Mar 2022
Trisomy 18, commonly known as Edwards syndrome, is the second most common autosomal trisomy among live born neonates. Multiple tissues including cardiac, abdominal, and nervous systems are affected by an extra chromosome 18. To delineate the complexity of anomalies of trisomy 18, we analyzed cultured amniotic fluid cells from two euploid and three trisomy 18 samples using single-cell transcriptomics. We identified 6 cell groups, which function in development of major tissues such as kidney, vasculature and smooth muscle, and display significant alterations in gene expression as detected by single-cell RNA-sequencing. Moreover, we demonstrated significant gene expression changes in previously proposed trisomy 18 critical regions, and identified three new regions such as 18p11.32, 18q11 and 18q21.32, which are likely associated with trisomy 18 phenotypes. Our results indicate complexity of trisomy 18 at the gene expression level and reveal genetic reasoning of diverse phenotypes in trisomy 18 patients.
View
... Trisomy 18, also known as Edwards syndrome (Edwards et al. 1960), is characterized by the presence of an extra copy of chromosome 18, and is the most common form of autosomal trisomy in live births beside of Down syndrome (trisomy 21) (Carey 2005;Savva et al. 2010;Cavadino and Morris 2017). The incidence of full trisomy 18 is about 94%, compared to all types of trisomy 18 (Cereda and Carey 2012;Mirmohammadsadeghi et al. 2017). Case reports have shown that craniofacial, musculoskeletal, cardiac, abdominal, and nervous systems are most likely to be affected by trisomy 18, even though many organs and tissues display defects (Cereda and Carey 2012;Nagamuthu and Neelaveni 2014;Roberts et al. 2016;Turbiville et al. 2017;Fan et al. 2018). ...
... Case reports have shown that craniofacial, musculoskeletal, cardiac, abdominal, and nervous systems are most likely to be affected by trisomy 18, even though many organs and tissues display defects (Cereda and Carey 2012;Nagamuthu and Neelaveni 2014;Roberts et al. 2016;Turbiville et al. 2017;Fan et al. 2018). Risk factors for the disease include a positive family history in close relatives and the increasing maternal age (Ginsberg et al. 1968;Calderone et al. 1983;Mirmohammadsadeghi et al. 2017). The prognosis for this genetic defect is poorly understood due to multiple system involvement (Norwitz and Levy 2013;Imataka et al. 2016). ...
Single-cell transcriptomics reveals diverse and complex gene expression alterations in human trisomy 18
Preprint
Full-text available
  • Dec 2019
Trisomy 18, commonly known as Edward's syndrome, is the second most common autosomal trisomy among live born neonates. Multiple tissues including cardiac, abdominal, and nervous systems are affected by an extra chromosome 18. To delineate the complexity of anomalies of trisomy 18, we analyzed amniotic fluid cells from two normal and three trisomy 18 samples using single-cell transcriptomics. We identified six cell groups, which function in major tissue development such as kidney, vasculature, and smooth muscle, and display significant alterations in gene expression detected by single-cell RNA-sequencing. Moreover, we demonstrated significant gene expression changes in previously proposed trisomy 18 critical regions, and identified three new regions such as 18p11.32, 18q11, 18q21.32, which are likely associated with trisomy 18 phenotypes. Our results indicate complexity of trisomy 18 at the gene expression level and reveal genetic reasoning of diverse phenotypes in trisomy 18 patients.
View
... However, in some cases, a patient's blindness and deafness may have independent genetic causes. Although gene mutations are the main genetic cause of DSI, chromosomal abnormalities can also lead to DSI, such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) [10][11][12][13]. However, these causes are not included in this review. ...
Multidisciplinary approach to inherited causes of dual sensory impairment
Article
Full-text available
  • Jun 2023
  • GRAEF ARCH CLIN EXP
Purpose This article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach. Methods A narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective. Results There are a wide range of dual sensory impairment (DSI), commonly referred to as blindness and deafness. While Usher syndrome is the most frequent genetic cause, other genetic syndromes such as Alport syndrome or Stickler syndrome can also lead to DSI. Various retinal phenotypes, including pigmentary retinopathy as seen in Usher syndrome, vitreoretinopathy as in Stickler syndrome, and macular dystrophy as in Alport syndrome, along with type of hearing loss (sensorineural or conductive) and additional systemic symptoms can aid in diagnostic suspicion. A thorough ophthalmologic and otorhinolaryngologic examination can help guide diagnosis, which can then be confirmed with genetic studies, crucial for determining prognosis. Effective hearing rehabilitation measures, such as hearing implants, and visual rehabilitation measures, such as low vision optical devices, are crucial for maintaining social interaction and proper development in these patients. Conclusions While Usher syndrome is the primary cause of inherited dual sensory impairment (DSI), other genetic syndromes can also lead to this condition. A proper diagnostic approach based on retinal phenotypes and types of hearing loss can aid in ruling out alternative causes. Multidisciplinary approaches can assist in reaching a definitive diagnosis, which has significant prognostic implications.
View
... Calderone et al. [22] have provided a very detailed overview of the ocular clinical and histologic findings. Esotropia, retinal hyperpigmentation, and optic nerve atrophy have been reported clinically [27], underlining the difference between the clinical and histologic evaluation. Functional parameters such as strabism and ptosis can be diagnosed only by a clinical investigation, but postmortem histologic evaluation can provide further details on the chamber angle development, retinal architecture, and the altered corneal structures. ...
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The Trisomy 18 syndrome
Article
Full-text available
  • Oct 2012
  • ORPHANET J RARE DIS
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.
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Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome
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Full-text available
  • Oct 2010
Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.
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Trisomy 18 in a 13 year old girl
Article
Full-text available
  • Jul 1986
A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.
View
View
Congenital Optic Nerve Pit in Trisomy 18
Article
  • Jun 2013
  • J PEDIAT OPHTH STRAB
The authors report the first case of trisomy 18 associated with a clinically detectable optic nerve pit. A female infant with a birth weight of 2,150 g was born by cesarean section to a healthy 40-year-old woman at 38 weeks of gestation. Trisomy 18 had been diagnosed by prenatal genetic testing. Ophthalmologic examination was remarkable for bilateral narrowed palpebral fissures with punctal agenesis, corectopic pupils without reaction to light, bilateral inferior peripapillary retinochoroidal hypopigmentation, and significant optic nerve cupping in the left eye with associated temporal optic nerve pit. It has generally been accepted that optic nerve pits are a congenital anomaly. However, the pathophysiological background of optic nerve pits remains unclear and controversial. This is the first clinical and photographic documentation of an optic nerve pit in a neonate and in Edwards syndrome. [J Pediatr Ophthalmol Strabismus 2013;50:e24-e26.].
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Microphthalmia in a Case of Edward Syndrome
Article
Aim: To present an infant of trisomy 18 (Edwards Syndrome) with unilateral microphthalmia. Methods: A female infant who was born at 41 weeks of gestation had been diagnosed with Edwards Syndrome (ES). On ophthalmic examination, microphthalmia, microcornea, optic disc coloboma, and persistent hyaloid artery were determined in the left eye. In addition, abnormalities in the ears, hands, feet, and cardiovascular system were present. Discussion: With this case report, we aimed to highlight the relationship between ocular disgenesis and chromosomal disorders and the importance of prenatal testing and genetic counseling for parents.
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Esotropia.
Article
  • Feb 1988
  • Trans Am Ophthalmol Soc
View
Ocular Manifestations of Trisomy 18
Article
  • Aug 1968
  • AM J OPHTHALMOL
Clinical, pathologic and cytogenetic findings were presented in two patients with typical trisomy 18. Special emphasis was placed on ocular manifestations. Microscopically the most important and clinically significant findings were present in the cornea, lens, uvea and retina. The overall pathologic appearance did not closely resemble that encountered in other congenital anomalies. Ocular abnormalities were sufficiently common (approximately 50%) to be considered part of the phenotypic manifestations of trisomy 18. Most of the findings were limited to the orbit and eyelids and were relatively minor in comparison with those encountered in trisomy 13-15. The diagnostic significance of individual or multiple eye defects is still unknown. Determination of the overall incidence and degree of ocular abnormality accompanying trisomy 18 must await further pathologic study.
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Intraocular pathology of trisomy 18 (Edward's syndrome): Report of a case and review of the literature
Article
  • Apr 1983
The ophthalmic histopathology is detailed in a case of trisomy 18 (Edwards's syndrome). In addition to the ocular pathology already reported, previously unreported findings of iris stromal hypoplasia, abnormal lens shape, and decreased ganglion cells in the retina are noted. The ophthalmic histopathology associated with this syndrome and the relationship of several genetic disorders to their ocular manifestations are discussed.
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Prenatal diagnosis of trisomy 6 mosaicism
Article
  • May 2005
We report on a fetus with multiple congenital anomalies detected at the prenatal ultrasound examination and a trisomy 6 mosaicism in the amniocytes. The pregnancy was interrupted in the 18th gestational week and the autopsy revealed malformations including cleft right hand, arthrogryposis and hypoplasia of the 4th digit of the left hand, syndactylies and overlapping toes, facial dysmorphism with hypertelorism and low-set ears, ventricular septum defect (VSD), intestinal malrotation and scoliosis. Trisomy 6 mosaicism was detected in cultured amniocytes (13.3%), confirmed in umbilical cord fibroblasts (40%) and by fluorescence in situ hybridization on other fetal tissues. Trisomy 6 mosaicism is a very rare finding with only eight cases previously reported to our best knowledge.
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