Longitudinal survey of blood flow at three different locations in the middle cerebral artery in normal fetuses

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题名:	Longitudinal survey of blood flow at three different locations in the middle cerebral artery in normal fetuses
作者:	Hsieh, YY;Chang, CC;Tsai, HD;Tsai, CH
贡献者:	附設醫院婦產部;China Med Coll Hosp, Dept Obstet & Gynecol, Taichung, Taiwan;China Med Coll Hosp, Dept Pediat & Med Genet, Taichung, Taiwan
日期:	2001
上传时间:	2010-09-24 14:48:26 (UTC+8)
出版者:	BLACKWELL SCIENCE LTD
摘要:	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. Copyright (C) 2001 S.Karger AG, Basel.
關聯:	ULTRASOUND IN OBSTETRICS & GYNECOLOGY 17(2):125-128
显示于类别:	[台中附設醫院] 期刊論文

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