Poland-Mobius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

ABSTRACT:

Background

Möbius (Moebius) and Poland's syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6^th and 7^th cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respectively. Manifest simultaneously as Poland-Möbius (Poland-Moebius) syndrome, debate continues as to whether this is a distinct nosological entity or represents phenotypic variation as part of a spectrum of disorders of rhomboencephalic development. Etiological hypotheses implicate both genetic and environmental factors. The PLXND1 gene codes for a protein expressed in the fetal central nervous system and vascular endothelium and is thus involved in embryonic neurogenesis a

SUBMITTER: Glass GE 

PROVIDER: S-EPMC9801559 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature