[A syndrome of osteogenesis imperfecta, macrocephaly, wormian bones, frontal bossing, brachytelephalangy, hyperextensible joints, congenital blindness and oligophrenia in 3 sibs (author's transl)].
A familial syndrome is described in three siblings. The disease is characterized by osteoporosis, macrocephalus with wormian bones and frontal bossing, brachytelephalangy, hyperextensibility of the joints, congenital amaurosis and low grade oligophrenia. Clinically similar syndromes as Osteogenesis Imperfecta, Amaurosis Congenita Leber or the Osteoporosis-Pseudoglioma-Syndrome are discussed. The condition is thought to be an independent disease.
D000293:Adolescent; D000328:Adult; D001766:Blindness / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005385:Fingers; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010013:Osteogenesis Imperfecta / Q000150:complications*; D010024:Osteoporosis / Q000150:complications; D010264:Paraplegia / Q000150:complications; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Ein Syndrom bestehend aus Osteogenesis imperfecta, Makrozephalus mit Schaltknochen und prominenten Stirnhöckern, Brachytelephalangie, Gelenküberstreckbarkeit, kongenitaler Amaurose und Oligophrenie bei drei Geschwistern.