Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis

Clinical Features

Daish et al. (1989) described 2 sisters, aged 4 years and 12 months, with hydrocephalus, tall stature, joint laxity, and thoracolumbar kyphosis. They were the only children of a 34-year-old father and a 30-year-old mother who were unrelated. The father was found at the age of 21 to have the murmur of aortic regurgitation. Echocardiogram showed normal aortic root dimensions, mild floppiness of the aortic valve leaflets, and minimal aortic regurgitation. The mother had moderately increased joint mobility. Photographs of the older sister strongly suggested the Marfan syndrome. In both sisters ventriculoatrial or ventriculoperitoneal shunt was required for relief of hydrocephalus.

Inheritance

Daish et al. (1989) suggested that the sibs they reported had a novel autosomal recessive disorder of connective tissue. They also considered the possibility that the sisters represented a genetic compound, having inherited an abnormal connective tissue gene mutation from each parent.