β Scribed by Klinger, Gil; Merlob, Paul
No coin nor oath required. For personal study only.
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.
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The paper by prompted us to report the case of a family in which three children from a consanguineous marriage were affected by Thomas syndrome (Potter sequence with cleft lip/palate and cardiac anomalies). The parents were an Egyptian consanguineous couple who had had 3 pregnancies. The first pre
to that first described by Cumming et al. [
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