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

Tezcan I., Demir E., Asan E., Kale G., Muftuoglu S., Kotiloglu E.

CLINICAL GENETICS, cilt.51, sa.2, ss.118-121, 1997 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 2
  • Basım Tarihi: 1997
  • Doi Numarası: 10.1111/j.1399-0004.1997.tb02432.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.118-121
  • Anahtar Kelimeler: Cross syndrome, Dandy Walker malformation, myoclonic seizures, oculocutaneous hypopigmentation, ureteropelvic obstruction
  • Gazi Üniversitesi Adresli: Hayır

Özet

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.