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Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation.
Am J Med Genet A. 2009 Aug; 149A(8):1749-53.AJ

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, Chiang Mai University, Thailand. tanpaiboon1@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

19606477

Citation

Tanpaiboon, Pranoot, et al. "Expanding the Phenotypic Spectrum of Acro-cardio-facial Syndrome (ACFS): Exclusion of P63 Mutation." American Journal of Medical Genetics. Part A, vol. 149A, no. 8, 2009, pp. 1749-53.
Tanpaiboon P, Sittiwangkul R, Dejkhamron P, et al. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. Am J Med Genet A. 2009;149A(8):1749-53.
Tanpaiboon, P., Sittiwangkul, R., Dejkhamron, P., Srikummool, M., Sripathomsawat, W., & Kantaputra, P. (2009). Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. American Journal of Medical Genetics. Part A, 149A(8), 1749-53. https://doi.org/10.1002/ajmg.a.32737
Tanpaiboon P, et al. Expanding the Phenotypic Spectrum of Acro-cardio-facial Syndrome (ACFS): Exclusion of P63 Mutation. Am J Med Genet A. 2009;149A(8):1749-53. PubMed PMID: 19606477.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. AU - Tanpaiboon,Pranoot, AU - Sittiwangkul,Rekwan, AU - Dejkhamron,Prapai, AU - Srikummool,Metawee, AU - Sripathomsawat,Warissara, AU - Kantaputra,Piranit, PY - 2009/7/17/entrez PY - 2009/7/17/pubmed PY - 2009/10/1/medline SP - 1749 EP - 53 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 149A IS - 8 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/19606477/Expanding_the_phenotypic_spectrum_of_acro_cardio_facial_syndrome__ACFS_:_Exclusion_of_P63_mutation_ L2 - https://doi.org/10.1002/ajmg.a.32737 DB - PRIME DP - Unbound Medicine ER -