Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

ABSTRACT:

Background

Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias.

Methods

Systemic prenatal ultrasound examination was performed in the second or third trimester. Genetic tests including GTG-banding, single nucleotide polymorphism (SNP) array and exome sequencing were performed with amniocytes or aborted fetal tissues.

Results

The major and common ultrasound anomalies for the four unrelated fetuses included short long bones of the limbs and narrow thorax. No chromoso

SUBMITTER: Peng Y 

PROVIDER: S-EPMC10704717 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature