1-3 of 3
Keywords: Hearing loss
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype

Available to Purchase
Subject Area:
Genetics
Pratibha Nair, Sami Bizzari, Cybel Mehawej, Eliane Chouery, Perla Audi, Sandra Corbani, Rima Korban, Daniel Mahfoud, Andrea Superti-Furga, Stepahny El-Hayek, Andre Megarbane
Journal: Molecular Syndromology
Mol Syndromol 1–10.
https://doi.org/10.1159/000542345
Published Online: 28 November 2024
... with a complex phenotype including a skeletal dysplasia, characterized by a small thorax and phalangeal shortening, as well as cardiac anomalies and sensorineural hearing loss. Molecular analysis identified the presence of three potentially disease-causing genetic variants. These include homozygous variants...
View articletitled, Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Open the PDF for Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype in another window
Journal Articles

Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal, Özlem Giray Bozkaya
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 200–205.
https://doi.org/10.1159/000519364
Published Online: 12 January 2022
... this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed...
View articletitled, Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct
Open the PDF for Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct in another window
Journal Articles

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss

Available to Purchase
Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Ragnhild Drage Berentsen, Bjørn I. Haukanes, Pétur B. Júlíusson, Karen Rosendahl, Gunnar Houge
Journal: Molecular Syndromology
Mol Syndromol (2019) 9 (5): 228–234.
https://doi.org/10.1159/000492418
Published Online: 08 November 2018
... the SYNS4 phenotype, we examined 6 of 9 affected family members. The phenotype was carpal and tarsal synostoses with painful feet after walking, but the condition could also be asymptomatic. Interestingly, unlike the previous SYNS4 families, the family presented here has no history of hearing loss, and a 73...
View articletitled, A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss
Open the PDF for A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss in another window