Cases reported "Coloboma"

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1/18. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3).

    We report a novel case of partial trisomy 19q and concomitant partial monosomy 21q, segregated from a maternal translocation (19;21) (q13.1;q22.3), identified by spectral karyotyping. Clinical examination revealed dysmorphic features of the face and limbs, cleft palate, bilateral colobomas with associated bilateral colobomatous optic nerve cysts, hearing loss, and a cardiac anomaly. At autopsy, the dysmorphic features and cleft palate were confirmed. The ocular histopathology is described in detail and the cardiac anomaly was further specified. The combination of phenotype features is diagnostic of the CHARGE (coloboma, heart malformation, atresia choanae, retarded growth and development, and/or CNS anomalies, genital hypoplasia, ear anomalies and/or deafness) association. This case also has some phenotypic features in common with previous cases of partial trisomy 19q. The importance of a complete autopsy in cases with multiple congenital anomalies and/or genetic abnormalities is emphasized. This will allow optimal genetic counseling and contribute to our understanding of developmental biology.
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ranking = 1
keywords = partial trisomy, trisomy
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2/18. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

    trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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ranking = 0.070390604419059
keywords = trisomy
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3/18. Ocular manifestations of mosaic trisomy 22: a case report and review of the literature.

    Mosaic trisomy 22 is rare, but can be compatible with prolonged life. patients with mosaic trisomy 22 usually present with intrauterine growth retardation, mental retardation, failure to thrive, and craniofacial asymmetry. We report the case of a five-year-old boy who had a birth weight of 3.8 kg and normal developmental milestones. He presented with unilateral ocular manifestations of ptosis, double elevator palsy, high myopia, and choroidal coloboma involving the macula. Cytogenetic evaluation showed a low level of trisomy 22 in peripheral blood lymphocytes (1 in 100) and in cultured fibroblasts from a conjunctival biopsy of the affected eye (1 in 60). Our case demonstrates the value of chromosomal analysis of the tissues involved rather than just karyotyping of the blood lymphocytes to detect mosaicism in patients with localised and unilateral congenital malformations.
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ranking = 0.49273423093342
keywords = trisomy
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4/18. Ocular coloboma and high myopia with hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

    Syndromic hirschsprung disease has been associated with mutations in ZFHX1B, a Smad-interacting transcriptional repressor protein. Tissue in situ hybridization has demonstrated strong expression of ZFHX1B in the developing eye, suggesting that some mutations in this gene may cause visual loss. However, none of the reported mutations have been associated with an ocular phenotype. We describe a patient with down syndrome and hirschsprung disease with high myopia and ocular coloboma affecting the iris and retina. In addition to trisomy 21, a novel, de novo heterozygous A to G transition in exon 8 of the ZFHX1B gene was identified, which results in a R953G amino acid substitution. This abnormality was not seen in a screen of 200 chromosomes from ethnically matched, normal controls. The arginine residue at position 953 is an extremely conserved amino acid throughout evolution. This is the first report associating hirschsprung disease and severe eye defects with a specific genetic mutation and is the first report of a mutation in ZFHX1B causing a developmental ocular anomaly.
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ranking = 0.3519530220953
keywords = trisomy
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5/18. Clinical ocular abnormalities in infants with trisomy 13.

    PURPOSE: Previous reports of ocular abnormalities associated with trisomy 13 have described pathologic abnormalities, with minimal descriptions of clinical findings. This report describes the clinical findings in four infants with trisomy 13. DESIGN: Retrospective noncomparative case series. methods: review of medical records of four infants with trisomy 13. One patient underwent cataract surgery and treatment of Coats disease. RESULTS: All four infants had inferonasal iris colobomas with unilateral inferonasal cataracts, primarily involving the posterior lens surface. Two patients had pigmented tissue associated with the cataracts. cataract surgery was performed in one of the patients with good results. This patient also developed a unilateral exudative retinal detachment with peripheral telangiectatic vessels. This resolved after treatment with cryotherapy. CONCLUSIONS: The cataracts in these infants with trisomy 13 had similar clinical features, which were different than those seen in other types of cataracts in infants. In addition, one patient had Coats disease, which has not been previously described in association with trisomy 13. The presence of inferonasal iris colobomas and adjacent sectoral cataracts in patients with other dysmorphic findings should prompt chromosomal analysis for trisomy 13.
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ranking = 0.70390604419059
keywords = trisomy
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6/18. Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.

    Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.
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ranking = 1.0703906044191
keywords = partial trisomy, trisomy
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7/18. microphthalmos with colobomatous orbital cyst in trisomy 13.

    The authors describe a case of trisomy 13 with microphthalmos and colobomatous cyst of the optic nerve and of the chorioretina with orbital extension, in a six-month-old female patient. The colobomatous cyst has been studied by means of computerized axial tomography and ultrasonography in order to follow its evolution. The orbital cyst has not increased in size.
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ranking = 0.3519530220953
keywords = trisomy
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8/18. Heterotopic ciliary epithelial differentiation in a patient with trisomy 13.

    A premature infant was born with congenital anomalies suggestive of trisomy 13, confirmed by karyotype analysis. Pathologic examination of the eyes revealed typical features of trisomy 13, including microphthalmos, extensive colobomata, and retinal dysplasia. A heterotopic ciliary body had also developed in the posterior segment of the left eye in the region of the posterior coloboma. The development of a well-formed ciliary body in the posterior segment of the eye questions the hypothesis that physical contact between the lens primordium and neuroepithelium is required for ciliary body development.
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ranking = 0.42234362651436
keywords = trisomy
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9/18. The ocular pathology of trisomy 22: report of two cases and review.

    Two cases of full trisomy 22 with the associated gross and microscopic pathology are reported. These cases demonstrate the typical craniofacial and organ system anomalies previously reported in trisomy 22 but also exhibit uveal colobomas that, within the spectrum of chromosome 22 anomalies, are usually restricted to the so-called "cat eye" syndrome. The attendant microscopic ocular findings represent, the best of our knowledge, the first such report in the literature.
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ranking = 0.42234362651436
keywords = trisomy
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10/18. trisomy 4q with morning glory disc anomaly.

    The authors describe a case of trisomy 4q with a unilateral morning glory disc anomaly, a previously unreported ocular manifestation. Previous ocular involvements are summarized.
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ranking = 0.070390604419059
keywords = trisomy
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