Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)
Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)
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DOI：
10.1002/ajmg.a.30953
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发表时间：
2005-10-15
影响因子：
2
通讯作者：
Gershoni-Baruch, R
中科院分区：
文献类型：
--
作者：
Haimi, M;Gershoni-Baruch, R
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. (c) 2005 Wiley-Liss, Inc.
