| Literature DB >> 9880217 |
Abstract
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.Entities:
Mesh:
Year: 1998 PMID: 9880217 DOI: 10.1002/(sici)1096-8628(19981228)80:5<506::aid-ajmg13>3.0.co;2-1
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299