Title: A Rare Presentation of Adams Oliver Syndrome - A Case Report
Authors: Dr S.K.Valinjkar, Dr Yogesh Mokase, Dr Sameer Raut
DOI: https://dx.doi.org/10.18535/jmscr/v5i4.109
Abstract
We are presenting a case of Adams Oliver Syndrome (AOS) in a newborn. This is rare congenital condition which presents with aplasia cutis congenita with transverse terminal limb defects with or without neurological manifestations. Diagnosis is based on clinical examination. Genetic diagnosis is available .Once the AOS-related pathogenic variants have been identified in an affected family member, molecular genetic prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for AOS are possible.
Keywords- Adams Oliver Syndrome, Aplasia Cutis Congenita, Cutis Marmorata Telengiectatica Congenita.
References
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