Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

Motti Haimi, Ruth Gershoni-Baruch

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

Original languageEnglish
Pages (from-to)268-271
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume138 A
Issue number3
DOIs
StatePublished - 15 Oct 2005
Externally publishedYes

Keywords

  • Autosomal recessive inheritance
  • Chorioretinopathy
  • Developmental delay
  • Hair anomalies
  • Hypopituitarism
  • Retinitis pigmentosa
  • Short stature
  • Trichomegaly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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