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Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family

✍ Scribed by Sadler, Laurie S. ;Robinson, Luther K.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
396 KB
Volume
47
Category
Article
ISSN
0148-7299

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We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic