Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of a new case

M. Lerone, A. Pessagno, A. Taccone, G. Poggi, C. Romeo, M. C. Silengo

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)87-89
Number of pages3
JournalClinical Genetics
Volume41
Issue number2
Publication statusPublished - 1992

Keywords

  • Autosomal recessive inheritance
  • Cross syndrome
  • Dandy-Walker malformation
  • Mental retardation
  • Oculocutaneous hypopigmentation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Lerone, M., Pessagno, A., Taccone, A., Poggi, G., Romeo, C., & Silengo, M. C. (1992). Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of a new case. Clinical Genetics, 41(2), 87-89.