Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation
| Autor: | Metawee Srikummool, Piranit Nik Kantaputra, Warissara Sripathomsawat, Prapai Dejkhamron, Pranoot Tanpaiboon, Rekwan Sittiwangkul |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Ectrodactyly Adolescent Scoliosis medicine.disease_cause digestive system Young Adult Internal medicine Genetics medicine Humans Abnormalities Multiple Congenital Malformation Syndrome Genetics (clinical) Subclinical infection Mild scoliosis Mutation business.industry Tumor Suppressor Proteins Syndrome medicine.disease Hand Phenotype Dermatology digestive system diseases Radiography Endocrinology Trans-Activators Female business Hemivertebrae Transcription Factors |
| Zdroj: | American journal of medical genetics. Part A. (8) |
| ISSN: | 1552-4833 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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