Congenital horizontal gaze palsy and kyphoscoliosis in two brothers.
In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.
D000328:Adult; D006801:Humans; D007738:Kyphosis / Q000150:complications / Q000235:genetics*; D008297:Male; D009886:Ophthalmoplegia / Q000150:complications / Q000151:congenital* / Q000235:genetics; D012600:Scoliosis / Q000150:complications / Q000235:genetics*