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Malformative syndrome of the skeleton characterized by hypoplasia of carpal bones, microstomia, and micrognathia.

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Carpal Deformity with Micrognathia and Microstomia.

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Two reported cases, a mother and her son, have been described. Presumed autosomal dominant inheritance.

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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.

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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 26:557, 1987.  [PubMed: 3565470]

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