Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.
In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.
Fryns
J P
JP
Centre for Human Genetics, Department of Human Biology, Leuven, Belgium.
Dereymaeker
A M
AM
Heremans
G
G
Marien
J
J
van Hauwaert
J
J
Turner
G
G
Hockey
A
A
van den Berghe
H
H
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000235:genetics*; D001766:Blindness / Q000235:genetics; D003241:Consanguinity; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009759:Nystagmus, Pathologic / Q000235:genetics; D011782:Quadriplegia / Q000235:genetics; D013285:Strabismus / Q000235:genetics; D013577:Syndrome