Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).
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.
Haimi
Motti
M
Department of Human Genetics, Rambam Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.
Gershoni-Baruch
Ruth
R
D000293:Adolescent; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D004393:Dwarfism, Pituitary / Q000235:genetics*; D005138:Eyebrows / Q000002:abnormalities; D005140:Eyelashes / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome