Klinger G, Merlob P
Department of Neonatology, Rabin Medical Center, Petah Tiqva, Israel.
Am J Med Genet. 1998 Sep 23;79(3):197-9.
We describe a new family with Adams-Oliver syndrome. One sib had scalp aplasia cutis congenita (SACC) and cutis marmorata and a second sib had SACC, cutis marmorata, and terminal lower limb defects. In both the findings were associated with oligohydramnios. The pedigree suggests autosomal recessive inheritance. New phenotypic-anthropometric findings in one infant were upper limb micromelia and brachypodia.
我们描述了一个患有亚当斯-奥利弗综合征的新家族。一个同胞患有先天性头皮皮肤发育不全（SACC）和大理石样皮肤，另一个同胞患有SACC、大理石样皮肤和下肢末端缺损。在这两个病例中，这些发现都与羊水过少有关。系谱提示为常染色体隐性遗传。一名婴儿有新的表型-人体测量学发现，即上肢短小和短足。
