Cataract, Aberrant Oral Frenula, And Growth Retardation

Clinical Features

Wellesley et al. (1991) described a mother and 2 children, a boy and a girl, with short stature, cataracts, and aberrant oral frenula. The mother was 150 cm tall (less than the 3rd centile) and had had cataracts removed in early adulthood. The boy had left ptosis with hypermetropia, and bilateral posterior polar cataracts were removed at the age of 3 years. His facial changes consisted of epicanthal folds. There were numerous aberrant frenula of the upper alveolar margin. He had a small umbilical hernia and had had bilateral inguinal herniorrhaphies. The girl had a cavernous hemangioma at the right corner of her mouth but at 19 months had not yet developed cataracts which occurred later in her brother.