A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings

Clin Genet. 1997 Feb;51(2):118-21. doi: 10.1111/j.1399-0004.1997.tb02432.x.

Abstract

Cross syndrome is a rare syndrome characterized by ocular and cutaneous hypopigmentation and neurological manifestations. A few reports have been published since 1967. In this report, we present a new case of Cross syndrome with additional findings such as urinary tract abnormality, bilateral inguinal hernia, focal interventricular septal hypertrophy of the heart and vacuolization of myeloid series cells and distinct ultrastructural features of the skin.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cardiomegaly / complications
  • Cardiomegaly / genetics*
  • Consanguinity
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics
  • Female
  • Hernia, Inguinal / complications
  • Hernia, Inguinal / genetics*
  • Hernia, Inguinal / surgery
  • Humans
  • Hypopigmentation / complications
  • Hypopigmentation / genetics*
  • Infant
  • Infant, Newborn
  • Kidney Pelvis / abnormalities
  • Male
  • Pregnancy
  • Seizures / drug therapy
  • Skin / pathology
  • Skin / ultrastructure
  • Syndrome
  • Ureteral Obstruction / genetics*
  • Ureteral Obstruction / surgery