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

Abstract

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.