Dyssegmental Dysplasia-Silverman Handmaker Type: a Rare Case Report

Abstract

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. We present a rare case of a pregnancy with a history of congenitally malformed fetuses. This is the 8th prenatally diagnosed case and the first in our department. The couple were both heterozygous carriers for a gene mutation causing DDSH. Invasive testing was performed for the ongoing pregnancy to check for the same gene mutation in the fetus. The fetus, now diagnosed as a carrier of the mutation was a boon to the distressed couple. Prenatal diagnosis is important in this type of lethal Dyssegmental Dysplasias to help make an informed decision and accordingly plan future pregnancy. Fetopathological examination and skeletal radiographs are mandatory in order to establish a precise diagnosis. With advances in genetic tests and the availability of specific newer tests, we can provide appropriate genetic counseling for a better pregnancy outcome.

Keywords

Skeletal dysplasia - Dyssegmental dysplasia - Invasive testing - Sanger sequencing - Whole exome

Publication History

Received: 07 July 2021

Accepted: 04 October 2021

Article published online:
05 May 2023