Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs.

SUMMARY This paper describes two sibs in each of whom keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance. Keratoconus posticus circumscriptus (KPC) is a rare congenital abnormality in which the cornea shows an area of increased curvature centrally localised on its posterior surface in association with opacifica-tion of the overlying stroma.1 On slit lamp examination the cornea appears as if its posterior surface has been indented by a spherical object of a size smaller than that of the cornea itself. In this report we describe two sibs, one boy and one girl, in each of whom KPC is associated with multiple abnormalities. Case reports The affected sibs, who have been under the care of one of us (JSC) since infancy, were the products of the first and fourth pregnancies of healthy unrelated Caucasian parents. The second and fifth pregnancies resulted in spontaneous first trimester abortions, and the third in a healthy male infant. There is no history of congenital abnormality on either side of the family. CASE 1 The boy, now aged 20 years, is shown in fig 1. He was born during the 34th week of pregnancy complicated by recurrent vaginal bleeding in the second and third months. Birthweight was 2.09 kg. Examination at three days revealed bilateral cleft lip and palate plus bilateral central posterior corneal opacities. It was noted that the lenses, which were clear, appeared to lie in juxtaposition to the posterior surfaces of the corneae. Over the next three weeks the anterior chambers were observed to deepen. Other than recurrent aspiration pneumonia during early infancy, this boy has enjoyed good general .: sg5 l *V0 FIG 1 Case I aged 18 years. Note the prominent nose and columella, neck webbing, small hands and feet, and abnormal posture owing to the spinal abnormalities. 332 M,