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

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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Main Authors: Tanpaiboon P., Sittiwangkul R., Dejkhamron P., Srikummool M., Sripathomsawat W., Kantaputra P.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-68049113481&partnerID=40&md5=6c0088e0a7b37249f4fcbf6f878ef8e4
http://www.ncbi.nlm.nih.gov/pubmed/19606477
http://cmuir.cmu.ac.th/handle/6653943832/2821
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Institution: Chiang Mai University
Language: English
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spelling th-cmuir.6653943832-28212014-08-30T02:25:26Z Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation Tanpaiboon P. Sittiwangkul R. Dejkhamron P. Srikummool M. Sripathomsawat W. Kantaputra P. 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. 2014-08-30T02:25:26Z 2014-08-30T02:25:26Z 2009 Article 15524825 10.1002/ajmg.a.32737 19606477 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-68049113481&partnerID=40&md5=6c0088e0a7b37249f4fcbf6f878ef8e4 http://www.ncbi.nlm.nih.gov/pubmed/19606477 http://cmuir.cmu.ac.th/handle/6653943832/2821 English
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
description 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.
format Article
author Tanpaiboon P.
Sittiwangkul R.
Dejkhamron P.
Srikummool M.
Sripathomsawat W.
Kantaputra P.
spellingShingle Tanpaiboon P.
Sittiwangkul R.
Dejkhamron P.
Srikummool M.
Sripathomsawat W.
Kantaputra P.
Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
author_facet Tanpaiboon P.
Sittiwangkul R.
Dejkhamron P.
Srikummool M.
Sripathomsawat W.
Kantaputra P.
author_sort Tanpaiboon P.
title Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_short Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_full Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_fullStr Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_full_unstemmed Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
title_sort expanding the phenotypic spectrum of acro-cardio-facial syndrome (acfs): exclusion of p63 mutation
publishDate 2014
url http://www.scopus.com/inward/record.url?eid=2-s2.0-68049113481&partnerID=40&md5=6c0088e0a7b37249f4fcbf6f878ef8e4
http://www.ncbi.nlm.nih.gov/pubmed/19606477
http://cmuir.cmu.ac.th/handle/6653943832/2821
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