Strenge S, Froster U G
Institut für Humangenetik, Universität Leipzig, Germany.
Am J Med Genet. 1998 Dec 28;80(5):506-9. doi: 10.1002/(sici)1096-8628(19981228)80:5<506::aid-ajmg13>3.0.co;2-1.
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.
患有罕见常染色体显性小头畸形-淋巴水肿综合征的患者智力看似正常。我们报告了一名患有小头畸形、淋巴水肿和身材矮小的男孩,身材矮小为另外一种表现。我们患者的家族史提示常染色体显性遗传,外显率降低且表现度可变。然而,X连锁遗传也不能排除。