A CASE OF ANTLEY-BIXLER SYNDROME WITH SEVERE SKELETAL CL. III MALOCCLUSION
نویسندگان
چکیده
منابع مشابه
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion.
Antley-Bixler syndrome is a disorder characterized by craniosynostosis, midface hypoplasia, choana blockade, and radiohumeral synostosis. However, the features of occlusion remain unclear. In this paper, we report a case of Antley-Bixler syndrome, a 7-year-old boy, from the viewpoint of orthodontics. From lateral cephalometric head film analysis, remarkable retardation of the anterior subcrania...
متن کامل[Antley-Bixler syndrome or POR deficiency?].
Antley-Bixler syndrome (ABS) is a rare congenital disorder characterized by numerous craniofacial, skeletal and, in some cases, urogenital abnormalities resulting from disordered steroidogenesis. Known genetic causes in sporadic cases of ABS include dominant mutations in the fibroblast growth factor 2 receptor gene (FGFR2). Recent research shows surprisingly that symptoms of Antley-Bixler syndr...
متن کاملProximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.
We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported befo...
متن کاملPrenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency
BACKGROUND Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. CASE REPORT We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pre...
متن کاملAntley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia – A Case Report
OBJECTIVE To report a case of type 2 Antley-Bixler syndrome (ABS). SUBJECT AND METHODS A 3-year-old boy who had been raised male, with facial dimorphism and malformations of both elbows and forearms, was referred to our unit for ambiguous genitalia. Genetic testing confirmed the diagnosis of ABS. A surgical intervention was performed to correct the ambiguous genitalia through a combined perin...
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ژورنال
عنوان ژورنال: The Bulletin of Tokyo Dental College
سال: 2004
ISSN: 0040-8891
DOI: 10.2209/tdcpublication.45.87