Open AccessDyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy
Author(s) -
Basalom Shuaa,
Trakadis Yannis,
Shear Roberta,
Azouz Michel E.,
De Bie Isabelle
Publication year - 2018
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.379
Subject(s) - medicine , dysplasia , pregnancy , pediatrics , osteochondrodysplasia , obstetrics , pathology , genetics , biology
Background Dyssegmental dysplasia Silverman‐Handmaker ( DDSH ; MIM 224410) type is an extremely rare skeletal dysplasia caused by functional null mutations in the perlecan gene. Less than forty cases are reported in the literature, of which only four were prenatally detected. Methods We report on a dizygotic twin pregnancy from consanguineous parents for which one of the twins presented prenatally with severe micromelia, limb bowing and scoliosis, and postnatally with clinical and radiological features compatible with a diagnosis of dyssegmental dysplasia. Molecular studies were undertaken to confirm the clinical diagnosis of DDSH . Results Molecular analysis results revealed a novel homozygous variant in the HSPG 2 gene ( MIM 142461), NM _005529.6( HSPG 2 ):c.4029 + 1G>A, consistent with a diagnosis of DDSH . Conclusion To the best of our knowledge, the current report is only the seventh molecularly confirmed case of DDSH .