title: [Holt-Oram syndrome associated with facial anomalies. A case report].
abstract: Cardiomyelic syndromes have skeletal malformations of the upper limb and congenital heart disease, and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and congenital heart defects. It is inherited in an autosomal dominant manner, a mutation in TBX5 gene located on chromosome 12 (12q24.1) is associated with variable phenotypes. This is an unusual case of a patient with Holt-Oram syndrome associated with facial anomalies: hemifacial microsomia on the right side, forehead prominent and tall, hypertelorism, depressed nasal bridge, low set ears and micrognathia. The presentation broadens the clinical spectrum with delineation of facial dysmorphic features.
authors.affiliation: Hospital de Pediatría, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. avinafie@megared.net.mx
authors.forename: Jorge Arturo
authors.initials: JA
authors.lastname: Aviña-Fierro
authors.forename: Gloria
authors.initials: G
authors.lastname: Colonnelli-Barba
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D038061:Lower Extremity Deformities, Congenital / Q000150:complications; D010641:Phenotype; D038062:Upper Extremity Deformities, Congenital / Q000150:complications