Dyssegmental dysplasia Silverman‐Handmaker type in a consanguineous Druze Lebanese family: Long term survival and documentation of the natural history

Abstract

We report on a male infant born with clinical and radiographic evidence of a lethal form of dyssegmental dysplasia not comparable to Silverman-Handmaker type, who had a prolonged survival of more than eight months. He had ocular and central nervous system abnormalities which have not been previously described. His course included significant feeding and respiratory difficulties, severe physical and psychomotor retardation, and recurrent fever of unknown etiology believed to be of central origin. The relatively long survival of this infant enabled us to focus on the natural history of this rare syndrome. The infant was born to first cousin parents of Druze Lebanese origin supporting an autosomal recessive mode of inheritance for the condition. This is the first documentation of dyssegmental dysplasia Silverman-Handmaker type in a family of Druze Lebanese ethnicity.

Dyssegmental Dysplasia-Silverman Handmaker Type: a Rare Case Report

“…DDSH is associated with poor fetal outcomes and immediate death in the early neonatal period in those who survive. The longest survival case of clinically diagnosed DDHS at 8 months of age was reported by Prabhu et al Prolonged survival in this baby was ascribed to recent advances in medical care, a possible role of gene modifiers and an intermediate phenotype of DDSH [8]. In our case, we could not retrieve the ultrasound and histopathological images.…”

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

“…reported the longest survival case of clinically diagnosed DDHS at 8 month of age. They attributed this prolonged survival to advances in medical care, possible gene modifiers and an intermediate phenotype (Prabhu, Kozma, Leftridge, Helmbrecht, & France, ). Another prolonged survival at four months for a patient with a clinical diagnosis of DDSH was reported by Winship et al.…”

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

“…The DD-SH type is an autosomal recessive lethal skeletal dysplasia. Prenatal cases have been reported as late as 34 weeks, 16 and survival has been reported up to 8 months in one case. 10 Our three cases with DD-SH are the earliest cases reported so far, with one of them detected as early as 13 weeks gestation.…”

“…The DD‐SH type is an autosomal recessive lethal skeletal dysplasia. Prenatal cases have been reported as late as 34 weeks, and survival has been reported up to 8 months in one case…”