Open AccessPrenatal Diagnosis of Acromelic Frontonasal Dysostosis
Author(s) -
C. MartínezPayo,
Fé Amalia García-Santiago,
Karen E. Heath,
Eduardo Gavín,
Elena Mansilla-Aparicio
Publication year - 2020
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000512304
Subject(s) - hypertelorism , medicine , anatomy , polydactyly , dysostosis , agenesis , agenesis of the corpus callosum , corpus callosum , surgery , congenital disease
Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the ZSWIM6 ( KIAA1577 ) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. The patients also present with central nervous system malformations such as encephalocele, agenesis of the corpus callosum, or interhemispheric lipoma. Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes postaxial polydactyly of the hands, talipes equinovarus, or tibia malformations. Here, we present a case of early prenatal diagnosis of AFND with ultrasound and necropsy images which show the phenotypic findings of this syndrome.