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首页> 外文期刊>Pediatric Reports >Apert syndrome: Diagnostic and management problems in a resource-limited country
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Apert syndrome: Diagnostic and management problems in a resource-limited country

机译：Apert综合症：资源有限国家的诊断和管理问题

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摘要

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sour? Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.
机译：Apert综合征或Acrocephalosyndactyly是一种罕见的遗传疾病，其特征是颅面缺陷性，手和脚部综合征。我们在一个4个月大的女性婴儿中举报了一个观察，其父亲65岁。婴儿被遗弃为酸的新生儿学？ Sanou University医院（Burkina Faso）在先天性畸形障碍中进行呼吸窘迫，在出生时重新扫描10分钟的复苏概念。她的临床检查揭示了颅面疑难术，综合征，育雏症，腭裂和精神术的延迟。旁立板评估包括骨骼的X线射线照片和脑神经沉积菌，证实双态同义和骨骼合并术;腹部尿道，心脏超声波没有透露任何异常;弓形虫血清学是阴性和风疹血清学阳性。 Apert综合征与阳性风疹血清学的关联似乎是偶然的。此外，Choanal Asresia和腭裂的关联尚未在Apert综合征中报告。在没有手术的情况下，婴儿一直持续到9个月，治疗前景。

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