## Abstract This is a report of a 16βyearβold boy with mental deficiency, shortness of stature, peculiar face and skull, multiple skeletal anomalies, limb contractures, total alopecia, and probable hypothalamic hypogonadism. A striking resemblance exists between this case and a female adolescent de
Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies
β Scribed by Dumi?, Miroslav ;Cvitanovic, Marijana ;Ille, Jasenka ;Potocki, Kristina
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 309 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0148-7299
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We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome,
This case seems to confirm the existence of the Gurrieri syndrome.
In 1995, Tsukahara et al. reported on a 9-yearold boy with radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation, a previously unreported syndrome. We now describe an 8-year-old Israeli Arab girl who appears to have the same condition. Her parents were first cousins,