Wiedemann-Steiner syndrome in two patients from Portugal

• Type: Another Publication in an International Scientific Journal
• Date: 2020

Authors

Grangeia, A (Author) Other; Leao, M (Author) Other; Carla Pinto Moura (Author) FMUP

Journal

Title: American Journal of Medical Genetics, Part A

ISSN: 1552-4825

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 10 Citations

Scopus - 10 Citations

Other information

Authenticus ID: P-00R-DFK

DOI: 10.1002/ajmg.a.61407

Abstract (EN): Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4