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

• 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
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32737

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.