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Microcephaly-lymphedema syndrome: Report of a family with short stature as additional manifestation

✍ Scribed by Strenge, Sibylle; Froster, Ursula G.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 31 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981228)80:5<506::aid-ajmg13>3.0.co;2-1

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✦ Synopsis

Patients with the rare autosomal dominant microcephaly-lymphedema syndrome have apparently normal intelligence. We report on a boy with microcephaly, lymphedema, and short stature as an additional manifestation. The family history of our patient suggests autosomal dominant inheritance with reduced penetrance and variable expressivity. However, X-linked inheritance cannot be excluded.

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