Stüve-Wiedemann syndrome: update and historical footnote.
Stüve-Wiedemann syndrome (SWS) is, at last, beginning to emerge from the shadows of campomelic syndrome as a nosologically and, presumably, causally-distinct entity, first delineated in 1971 on the basis of 2 affected sisters. The fact that these sisters had an affected double first cousin supports autosomal-recessive inheritance of SWS.
Wiedemann
H R
HR
Department of Pediatrics, Christian-Albrechts Universität, Kiel, Germany.
Stüve
A
A
D001842:Bone and Bones / Q000002:abnormalities*; D003241:Consanguinity; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009679:Nuclear Family; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012886:Skull / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging