Expanding the phenotypic spectrum of acro‐cardio‐facial syndrome (ACFS): Exclusion of P63 mutation

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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-08, Vol.149A (8), p.1749-1753
Main Authors: Tanpaiboon, Pranoot, Sittiwangkul, Rekwan, Dejkhamron, Prapai, Srikummool, Metawee, Sripathomsawat, Warissara, Kantaputra, Piranit
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
acro‐cardio‐facial syndrome
Adolescent
Adult
Biological and medical sciences
cleft lip and palate
congenital heart defects
Diseases of the osteoarticular system
Diseases of the spine
Endocrinopathies
Facial bones, jaws, teeth, parodontium: diseases, semeiology
Female
Hand - diagnostic imaging
hemivertebrae
Humans
Male
Medical genetics
Medical sciences
Mutation - genetics
Non tumoral diseases
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Otorhinolaryngology. Stomatology
Phenotype
Radiography
scoliosis
subclinical hyperthyroidism
Syndrome
Thyroid. Thyroid axis (diseases)
Trans-Activators - genetics
Transcription Factors
Tumor Suppressor Proteins - genetics
Young Adult
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Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32737