Results 1 to 10 of about 1,592 (100)

Expanded Phenotype of PAX2‐Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD [PDF]

Clinical Case Reports
Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies.
Nadira Sultana, Abdullah Al Mamun, Afroza Begum   +2 more
doaj   +3 more sources

Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population. Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with ...
Serena Shāh, Audina Berrocal, Ta Chen Chang   +2 more
exaly   +4 more sources

Atypical superotemporal iris and retinal coloboma [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report our findings in a patient with an atypical case of supertemporal iris and retinal coloboma, and to assess its systemic associations and potential genetic causes.
Katina N. Patterson, Margaret M. Reynolds, Gregg T. Lueder   +2 more
doaj   +2 more sources

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Khalid R, Fadl-Elmula I.
europepmc   +2 more sources

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]

Mol Genet Genomic Med
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Fan F, Chen Y, Zhang T, Ma J.
europepmc   +2 more sources

An unusual case of iris and lens colobomas: A case report [PDF]

Therapeutic Advances in Ophthalmology
Ocular colobomas are unusual congenital anomalies arising from abnormal ocular development and may involve different ocular structures, including the iris and lens.
Cong Ren, Zhang-Chen-Xi Gu, Jun-Guo Guo, Jing Pang, Bin Guo, Zhong-En Li   +5 more
doaj   +2 more sources

A Novel Pathogenic Variant in <i>PAX2</i>-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review. [PDF]

Case Rep Obstet Gynecol
Introduction Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by pathogenic variants in the PAX2 gene, primarily affecting renal and optic nerve development. However, the presentation of RCS is highly heterogeneous, ranging from mild renal anomalies to severe multi‐organ involvement.
Wang G, Wang J, Zhang L, Hou D, Huang Y, Wang H, Zhou X, Pang X, Li L, Song Y, Wang X.   +10 more
europepmc   +2 more sources

A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report

Frontiers in Pediatrics, 2020
Background: Branchio-oculo-facial syndrome (BOFS) is a rare congenital developmental disorder with highly variable clinical phenotypes in autosomal dominant inheritance.
Jie Min, Bing Mao
exaly   +3 more sources

Phenotypic Spectrum and Diagnostic Challenges in Klippel-Trenaunay Syndrome: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Klippel‐Trénaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformations, venous varicosities, and soft tissue or bony hypertrophy. This case series highlights rare and atypical presentations of KTS, emphasizing the importance of a multidisciplinary diagnostic approach.
Hameed M, Ali T, Haque MA.
europepmc   +2 more sources