The oculocerebrocutaneous (Delleman) syndrome.
نویسندگان
چکیده
L I AL-GAZALI*, D DONNAIt, S A BERRYI, B SAY§, AND R F MUELLER* From *the Department of Genetic Counselling, The Clarendon Wing, Leeds General Infirmary, Leeds; tthe Department of Medical Genetics, St Mary's Hospital, Manchester; tthe Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; and §the H Allen Chapman Research Institute of Medical Genetics, Children's Medical Center, Tulsa, Oklahoma, USA.
منابع مشابه
Delleman Oorthuys syndrome: ‘Oculocerebrocutaneous syndrome’
Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and...
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عنوان ژورنال:
- Journal of medical genetics
دوره 25 11 شماره
صفحات -
تاریخ انتشار 1988