Congenital spinal deformity in a three generation family.
Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant form of spondylocostal dysostosis, this family representing one end of the spectrum with mild rib changes. The clinical features of spondylocostal dysostosis are reviewed.
Temple
I K
IK
Department of Paediatric Genetics, Institute of Child Health, London.
Thomas
T G
TG
Baraitser
M
M
D000293:Adolescent; D000328:Adult; D001827:Body Height; D004413:Dysostoses / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012272:Ribs / Q000002:abnormalities*; D012600:Scoliosis / Q000235:genetics; D013131:Spine / Q000002:abnormalities*