Global Advanced Research Journal of Medicine and Medical Sciences (GARJMMS) ISSN: 2315-5159
August 2014 Vol. 3(8), pp. 181-185
Copyright © 2014 Global Advanced Research Journals

 

Case Report

Antley Bixler Syndrome (ABS), a very rare paediatric syndrome, the first reported case in Sudan

Dr. Omer Saeed Magzoub MD¹, Dr. Mohammed Mustafa MD²

¹Assistant Professor of Paediatrics and Child Health, Nile College, Khartoum, Sudan.
²Department of Paediatrics, Al-Obaied teaching hospital, N. Kurdufan, Sudan

*Corresponding Author E-mail: omagzoub@hotmail.com; Mobile: 002499-1991-2003

Accepted 18 August, 2014

Abstract

The Antley-Bixler syndrome (ABS) is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniocynostosis, radio-humeral synostosis, mid-facial hypoplasia, joint contractures, genital ambiguity and arachnodactyly (Hosalkar et al., 2001). Femoral arching, ulnar arching, vertebral anomalies, and articular contractures are secondary to synostosis (especially radio-humeral synostosis) (Machado et al., 2001). Antley-Bixler syndrome (ABS) in the scientific literature is genetically heterogeneous with at least two distinct disorders: (1) ABS without disordered steroidogenesis, which appears to be a variant of the autosomal dominant fibroblast growth factor receptor (FGFR)–related craniocynostosis syndromes, and (2) ABS with disordered steroidogenesis, which appears to be caused by severe mutations in cytochrome P450 oxidoreductase (POR) (Cragun and Hopkin, 2005; McGlaughlin et al., 2010; Reardon et al., 2000; Huang et al., 2005). In addition, a phenocopy of ABS may be seen in infants of mothers treated with fluconazole, an antifungal agent, in early pregnancy (Hosalkar et al., 2001; Reardon et al., 2000). Mortality is as high as 80% in the first months of life. Prenatal diagnosis by mid-trimester ultrasound examination is possible. Fixed flexion of the elbow appears to be the essential diagnostic finding. It needs multidisciplinary team approach in management (Hosalkar et al., 2001).

Keywords: Antley Bixler syndrome, mid-facial hypoplasia, multiple synostoses, joint contracture, Sudan.

 

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