Genetic nosology and counseling of humeroradial synostosis.
From published cases of humeroradial synostoses three entities can be delineated: AD ankylosis of the elbow as a part of a systemic disorder causing multiple synostoses (symphalangism), AR humeroradial synostosis with dysgenesis of the ulna (and fibula?) but without oligodactyly as part of a syndromal disorder, non-germinal uni- or bilateral humeroradial synostosis as part of ulnar malformation and oligodactyly. Three new observations are considered examples of the latter entity.
Pfeiffer
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Institut für Humangenetik der Friedrich-Alexander Universität Erlangen-Nürnberg.
Braun-Quentin
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D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013580:Synostosis / Q000000981:diagnostic imaging / Q000235:genetics*