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Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears

✍ Scribed by Hurst, J. A. ;Winter, R. M. ;Baraitser, M. ;Optiz, John M. ;Reynolds, James F.

Book ID: 101441027
Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 492 KB
Volume: 29
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320290113

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## Abstract This is a report of a 16‐year‐old 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