title: Terminal transverse limb defects associated with familial cavernous angiomatosis.
abstract: Terminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid-forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium-DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.
authors.affiliation: Department of Pediatrics, Walter Reed Army Medical Center, Washington, DC 20307.
authors.forename: M R
authors.initials: MR
authors.lastname: Filling-Katz
authors.forename: S W
authors.initials: SW
authors.lastname: Levin
authors.forename: N J
authors.initials: NJ
authors.lastname: Patronas
authors.forename: N N
authors.initials: NN
authors.lastname: Katz
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D005542:Forearm / Q000002:abnormalities*; D005799:Genes, Dominant / Q000235:genetics; D006392:Hemangioma, Cavernous / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree