Oculocerebral Syndrome With Hypopigmentation

Clinical Features

Cross et al. (1967) described a family in which 4 sibs (2 male, 2 female) had cutaneous hypopigmentation, severe ocular anomalies, and cerebral defect manifested by spasticity, mental and physical retardation, and athetoid movements. The syndrome has often been referred to as Cross syndrome, but it might also be called Kramer syndrome after the family in which it was observed.

Fryns et al. (1988) described 2 affected sibs, the offspring of second-cousin parents. The hair had a silver-gray color which was present from birth. Curiously, the same silver-gray hair was present from birth in a third, otherwise normal sib. Other reported cases include those of Passarge and Fuchs-Recke (1975), Preus et al. (1983), and Patton et al. (1987), but those in the last 2 reports may represent a separate entity (see 257790).

Courtens et al. (1989) described a case born to gypsy parents who denied consanguinity.

Lerone et al. (1992) reported a sporadic case and expanded the clinical picture to include developmental defects such as cystic malformation of the posterior fossa of the Dandy-Walker type.

White et al. (1993) described this disorder in a 20-year-old man who also had Bartter syndrome (see 241200), apparently as a coincidental association.

De Jong and Fryns (1991) reported 2 female sibs, born of consanguineous so-called 'Cape Coloured' (mixed race) parents, who had microcephaly, brown eyes with blue sclerae, gray hair of the scalp, eyebrows, and eyelashes that was an admixture of black and white hair, hypopigmented cafe-au-lait macules, psychomotor retardation, ataxia, and increased deep tendon reflexes. CT scan in 1 sib showed cerebellar hypoplasia with a wide fourth ventricle.

Tezcan et al. (1997) presented another case, the offspring of first-cousin parents. In addition to the ocular and cutaneous hypopigmentation with neurologic manifestations, the patient showed urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart, vacuolization of myeloid series cells, and distinct ultrastructural features of the skin.