Humero-spinal dysostosis: report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening.
The fourth reported case of humero-spinal dysostosis is notable in that (a) it confirms the unique combination of bifid distal humeri and coronal clefts, (b) involves a third unique feature as being mitral valve thickening. (c) suggests a more generalized involvement of bone in the form of a dysplasia, and (d) raises the possibility of repetitive craniofacial features.
Hall
B D
BD
Department of Pediatrics, University of Kentucky, Lexington, USA.
D000015:Abnormalities, Multiple; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000002:abnormalities*