Holt-Oram syndrome

A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
21184723
 FEMALE
[Holt-Oram syndrome associated with facial anomalies. A case report].
Avina-Fierro JA, Colonnelli-Barba G.
Rev Med Inst Mex Seguro Soc. 2010;48(6):657-9.
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.