A Rare Case of Prenatal Short‐Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the DYNC2I2 Gene: Presenting Polydactyly and Shortened Limbs

Clinical Case Reports 2026 Open access

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Authors: Zhihui Wang, Heqin Guan, Ximei Li, Jielan Liao, Yong Pan, Xueqin Dong, Xutao Hong
DOI: 10.1002/ccr3.71708
Cited by: 0
References: 8

Abstract

-related Short-Rib Thoracic Dysplasia 11 can present prenatally with prominent limb shortening and polydactyly as the primary ultrasound findings, while classic thoracic abnormalities may be subtle. This case highlights the condition's clinical heterogeneity and underscores the importance of genetic testing for accurate diagnosis and counseling.

Fields of Study & Subjects

Congenital Diaphragmatic Hernia Studies Hedgehog Signaling Pathway Studies Congenital heart defects research

Publication details

Journal / source
Clinical Case Reports
Volume
14
Issue
1
Pages
e71708–e71708
Publication date
1 January 2026
Language
EN