Malformative syndrome of the skeleton characterized by
hypoplasia of carpal bones, microstomia, and micrognathia.
Carpal Deformity with Micrognathia and Microstomia.
Two reported cases, a mother and
her son, have been described. Presumed autosomal dominant inheritance.
Main feature is a unilateral congenital hypoplasia of the
proximal row of carpal bones in the right hand. Dysplasia of the distal
carpal bones, radius, and ulna on the right side were also present. Both patients
had marked micrognathia, high-arched palate, and small mouth opening
(microstomia). However, several otherwise healthy family members (i.e., no limb
abnormalities) were retrognathic, thus, it is difficult to
unequivocally link this feature to the congenital carpal bone hypoplasia.
Primary concern is potential difficult
direct laryngoscopy and tracheal intubation because of retrognathia and
microstomia. Awake fiberoptic intubation, or other similar techniques, may be
necessary to secure the airway.
Krauss CM, Herman TE, Holmes LB: Unilateral carpal bone deformity in
mother and son. Am J Med Genet