Rare Case Report of Ambiguous Genitalia with Apert Syndrome
Journal: Sumerianz Journal of Medical and Healthcare (Vol.2, No. 1)Publication Date: 2019-01-15
Authors : Bassem Abou Merhi; Fatima Bohlok; Narjes Hazimeh; Zahraa Abou Hamdan; Maen Chemaly;
Page : 1-4
Keywords : Apert syndrome; Acrocephalosyndactyly; Ambiguous genitalia.;
Abstract
Apert syndrome is a rare developmental malformation (Rynearson, 2000). It's also known as, Acrocephalosyndactyly, characterized by premature fusion of the cranial suture (Craniosynostosis), malformation in the skull, the face, the hands and the feet (Gazi et al., 2014), (Cohen M. M. J., 1986). We here report an unusual presentation of Apert syndrome in a one day old baby presented with Acrocephalofacial malformation associated with ambiguous genitalia.
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Last modified: 2020-08-13 19:15:17