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Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome
Author(s) -
Rohena Luis,
Kuehn Devon,
Marchegiani Shan,
Higginson Jason D
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33900
Subject(s) - hypertelorism , medicine , variable expression , hearing loss , hypospadias , autosomal recessive inheritance , pediatrics , dermatology , genetics , anatomy , audiology , biology , gene
Ablepharon–macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two‐thirds of the reported patients. Additional anomalies include dry skin, growth retardation, hearing loss, camptodactyly, hypertelorism, absent zygomatic arches, and umbilical abnormalities. We present the second familial case of ablepharon–macrostomia syndrome in a newborn female and her 22‐year‐old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder. These cases likely represent the 16th and 17th reported cases of AMS and the first case suspected on prenatal ultrasound. Additionally, the child shows more prominent features of the disorder when compared to her father documenting variable expression and possible anticipation. Published 2011 Wiley‐Liss, Inc.