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Expanding the phenotypic spectrum of acro‐cardio‐facial syndrome (ACFS): Exclusion of P63 mutation
Author(s) -
Tanpaiboon Pranoot,
Sittiwangkul Rekwan,
Dejkhamron Prapai,
Srikummool Metawee,
Sripathomsawat Warissara,
Kantaputra Piranit
Publication year - 2009
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.32737
Subject(s) - medicine , subclinical infection , phenotype , dermatology , genetics , pediatrics , pathology , biology , gene
Acro‐cardio‐facial syndrome (ACFS) is a rare autosomal recessive congenital malformation syndrome; consistent features include ectrodactyly, cleft lip/palate with minor facial anomalies, genital abnormalities, mental retardation, and growth retardation. Five cases have been reported. We report on a new patient with ACFS syndrome. In addition to the characteristic features of ACFS, the reported patient also has mild scoliosis, hemivertebrae and subclinical hyperthyroidism. These additional features may expand the phenotypic spectrum of the syndrome. © 2009 Wiley‐Liss, Inc.