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Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case
Author(s) -
Lerone M.,
Possagno A.,
Taccone A.,
Poggi G.,
Romeo G.,
Silengo M. C.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03639.x
Subject(s) - hypopigmentation , medicine , pediatrics , athetosis , dermatology , pathology , disease , chorea
Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet 1992: 41: 87–89. A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three, sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy‐Walker type. We report a new case of Cross syndrome.