July - September 2012, Volume 8, Issue 3

Puiu M, Pienar C, Chirita Emandi A, Arghirescu S, Popa C, Micle I

A Case of Antley Bixler Syndrome: Diagnosis and Outcome

Acta Endo (Buc) 2012, 8 (3): 479-484
doi: 10.4183/aeb.2012.479

Introduction. The Antley-Bixler syndrome (ABS) is an extremely rare syndrome characterized by congenital\r\ncraniosynostosis and radiohumeral synostosis. Many patients demonstrate defects in steroidogenesis and disturbances\r\nof sexual development.\r\nAim: To present the first documented case of a Romanian patient with ABS.\r\nMaterial and Methods. Alexandru, a 3 year old child, was referred to our department for elucidating a complex\r\nmalformative syndrome that consisted of ambiguous genitalia and skeletal anomalies. We performed a complete assessment that ranged from obtaining a detailed medical history to gene sequencing. The hospital?s Ethical Committy gave\r\nthe authors its approval for using the medical data concerning the case, after the parents signed an informed consent.\r\nResults. Medical history. We note 4 previous admissions to our hospital during which efforts were made to diagnose the\r\nchild?s disorder of sexual development. At 3 months Edwards syndrome was suspected, which was later infirmed. During the third and fourth admission (8 months, 10 months respectively) the suspicion of congenital adrenal hyperplasia (CAH) was raised and then confirmed (impaired steroidogenesis, 46 XX karyotype). The patient was lost to\r\nfollow-up since then, probably due to the parents? inability to cope with the implications of their child?s condition.

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Correspondence: Corina Pienar, MD."Louis Turcanu" Emergency Hospital for Children, Iosif Nemoianu Nr. 2-3 Timisoara 300011 Romania. Email:cpienar@gmail.com