Send to

Choose Destination
Rev Med Inst Mex Seguro Soc. 2010 Nov-Dec;48(6):657-9.

[Holt-Oram syndrome associated with facial anomalies. A case report].

[Article in Spanish]

Author information

Hospital de Pediatría, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.


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.

[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center