ABSTRACT
Eight members of a 3-generation kindred of Indian descent with congenital contractural arachnodactyly (Beals syndrome) have been appraised. Considerable variation was noted in the clinical features of affected persons, and the previously unreported associated finding of clubbing of the fingers and toes was evident in two individuals. The family was investigated using conventional serum and protein markers, and RFLP probes for type I and II collagen. No linkage in affected members could be demonstrated with type I collagen probes.
Subject(s)
Marfan Syndrome/genetics , Adolescent , Adult , Child , Child, Preschool , DNA Probes , Female , Genetic Linkage , Genetic Markers/genetics , Humans , India/ethnology , Male , Marfan Syndrome/classification , Marfan Syndrome/pathology , Middle Aged , Pedigree , Phenotype , Polymorphism, Restriction Fragment Length , South AfricaABSTRACT
We report on an Indian woman with a severe shortness of stature, absence of the distal ulnae, and a predominantly spondylometaphyseal skeletal dysplasia. The clinicoradiographic changes in this patient appear to represent a unique skeletal disorder.
Subject(s)
Abnormalities, Multiple , Bone Diseases, Developmental/congenital , Ulna/abnormalities , Abnormalities, Multiple/diagnostic imaging , Adult , Bone Diseases, Developmental/diagnostic imaging , Female , Humans , Radiography , Spine/abnormalities , Spine/diagnostic imaging , Ulna/diagnostic imagingABSTRACT
We have investigated a South African family of Indian stock in which 4 brothers and 2 cousins had a severe form of osteogenesis imperfecta (OI) together with blindness due to hyperplasia of the vitreous, corneal opacity and secondary glaucoma. To the best of our knowledge the syndromic association of OI and ocular problems of this type has not previously been reported, and we believe that this condition is a newly recognised entity. The pedigree is consistent with autosomal recessive inheritance.
