Antley-Bixler syndrome: description of two patients

Bianchi, Elena; Cordini, S.; Fiori, Pedro; Torcetta, Francesco; Beluffi, Giampiero

doi:10.1007/bf01267660

Cited by 17 publications

(6 citation statements)

References 11 publications

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“…The main anomalies can be subdivided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies, as shown in table 1 [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 30, 31, 32, 33, 34, 35]. …”

Section: Discussionmentioning

confidence: 99%

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Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

2001

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Objective: Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS. Clinical Presentation: The first case was a 1-day-old female with Arnold-Chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. Discussion: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. Conclusion: Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.

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Section: Discussionmentioning

confidence: 99%

“…Upper airway obstruction and craniosynostosis seem to be the two main factors [30]. Early and effective management, especially for those cases with minimal respiratory dysfunction whose craniosynostosis is optimally managed, leads to a good prognosis, which may include normal intellectual development [2, 30, 31]. …”

Section: Discussionmentioning

confidence: 99%

Antley-Bixler Syndrome, Description of Two New Cases and Review of the Literature

2001

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“…Sindroma Antley-Bixler pertama kali dikemukakan oleh Ray Antley dan David Bixler pada tahun 1975 [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] dan sekitar 80 kasus telah dilaporkan hingga tahun 2013. 16 Sindroma ini terdiri dari craniosynostosis, synostosis radiohumeral, midface hypoplasia, stenosis atau atresia choanal, kontraktur multipel pada sendi-sendi, anomali kardiovaskuler hingga anomali viseral terutama sistem genitourinaria dan gangguan steroidogenesis.…”

Section: Pendahuluanunclassified

“…Kelainan sistem genitourinaria juga sangat bervariasi seperti hipoplasia labia mayora, fusi labia minora atau mayora, klitoromegali, hipoplasia vagina dan atau uterus, kriptorkidisme. 9,10,14,15 Diagnosis sindroma Antley-Bixler biasanya dapat ditegakkan berdasarkan penemuan klinis yakni craniosynostosis dan synostosis radiohumeral.…”

Section: Laporan Kasusunclassified

Antley-Bixler Syndrome: A Case Report and Literature Review

Hermanto¹,

Rachman

2020

Obgynia

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Sindroma Antley-Bixler pertama kali dikemukakan oleh Ray Antley dan David Bixler tahun 1975. Sindroma ini jarang dan berhubungan dengan kelainan perkembangan tulang dan kartilago sehingga sering disebut multisynostotic osteodysgenesis syndrome. Craniosynostosis dan synostosis radiohumeral merupakan temuan yang paling konsisten. Penyebab sindroma ini belum jelas, diduga karena adanya mutasi genetik. Laporan kasus:Seorang ibu 22 tahun G2P1A0 dirujuk ke poliklinik obstetri dan ginekologi RSUP dr.Sardjito pada usia kehamilan 32-33 minggu untuk pemeriksaan antenatal dengan kecurigaan fetal craniosynostosis dan ventriculomegaly. Pada usia kehamilan 38 minggu, bayi lahir dengan craniosynostosis, ocular hypertelorism, disertai syndactily digiti II-IV pedis dextra et sinistra dengan diagnosis sementara sindroma Apert. Pemeriksaan penunjang yakni MSCT scan kranial dan foto rontgen regio artikulatio cubiti anteroposterior dan lateral menunjukan adanya craniosynostosis dan synostosis radioulna dan radiohumeral bilateral mengarahkan diagnosis sindroma Antley-Bixler. Bayi dipulangkan setelah 24 hari perawatan. Saat ini bayi masih menjalani perawatan berkala di instalasi rawat jalan ilmu kesehatan mata dan bedah saraf RSUP Dr. Sardjito Kesimpulan: Laporan kasus ini bertujuan untuk membahas penegakan diagnosis, tatalaksana yang telah dilakukan dan rencana tatalaksana yang akan datang.

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“…8.3 ). Among the various (Drawbert et al 1985 ;Bianchi et al 1991 ;Kantaputra and Mongkolchaisup 1999 ). 8.4 ), which in turn may be part of a syndrome.…”

Section: Humeroradial Synostosismentioning

confidence: 99%