PONTOCEREBELLAR HYPOPLASIA ASSOCIATED WITH NEVOID HYPERPIGMENTATION AND DYSMORPHIC FINDINGS: A NEW SUBTYPE?


Sonmez F. , YAYLI S. , KUL S. , Celep F., ÖZKAYA A. K. , ERSÖZ Ş. , ...More

GENETIC COUNSELING, vol.23, no.3, pp.347-352, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2012
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.347-352

Abstract

A case of pomocerebellar hypoplasia associated with nevoid hyperpigmentation and dysmorphic findings: a new subtype? Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. Lineer nevoid hyperpigmentation is a rare skin condition characterized by whorls and streaks of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Herein we present a three year-old male patient with pontocerebellar hypoplasia associated with nevoid hyperpigmentation on the upper part of the body. Besides he has some dysmorphic features including microcephaly, triangular chin, long philtrum, long hand fingers, flexion contracture in all of the distal phalanges of both hands, and strabismus.