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 language | English |
|---|---|
| Pages (from-to) | 268-271 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 138 A |
| Issue number | 3 |
| DOIs | |
| State | Published - 15 Oct 2005 |
| Externally published | Yes |
Keywords
- Autosomal recessive inheritance
- Chorioretinopathy
- Developmental delay
- Hair anomalies
- Hypopituitarism
- Retinitis pigmentosa
- Short stature
- Trichomegaly
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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