Dyssegmental dysplasia in a South African neonate

Abstract

A female neonate born to nonconsanguineous Zulu parents had dyssegmental dysplasia, Silverman-Handmaker type. This condition has not previously been reported from the continent of Africa. She died at the age of 4 months following the development of pneumonia complicated by an unexplained anaemia.

Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy

“…Another prolonged survival at four months for a patient with a clinical diagnosis of DDSH was reported by Winship et al. (Winship & Beighton, ), while the vast majority of other patients with DDHS have died in the immediate perinatal period. The cases reported by Prabhu and Winship were diagnosed on the basis of clinical findings, without molecular confirmation.…”

“…They attributed this prolonged survival to advances in medical care, possible gene modifiers and an intermediate phenotype (Prabhu, Kozma, Leftridge, Helmbrecht, & France, 1998). Another prolonged survival at four months for a patient with a clinical diagnosis of DDSH was reported by Winship et al (Winship & Beighton, 2008), while the vast majority of other patients with DDHS have died in the immediate perinatal period. The cases reported by Prabhu and Winship were diagnosed on the basis of clinical findings, without molecular confirmation.…”

Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis

“…The SH subtype is an autosomal recessive caused by mutations in the heparan sulphate perlecan gene 2 ( HSPG2 ) mapped to 1p36.1 . This gene encodes the perlecan protein, abnormalities of which lead to disordered signaling and abnormal cartilage development …”

“…4,5 This gene encodes the perlecan protein, abnormalities of which lead to disordered signaling and abnormal cartilage development. [4][5][6][7][8] Clinical characteristics of DD-SH include flat facies, short neck, narrow chest, decreased joint mobility, severe short stature, and talipes equinovarus. Variable features include encephalocele and cleft lip or palate.…”

“…Joint contractures, metatarsus varus, and pes equinovarus may be present . Although survival up to 8 months has been described, DD‐SH is usually lethal and results in intrauterine death or brief postnatal survival.…”