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特雷彻·柯林斯综合征:一例报告。

Treacher Collins Syndrome: A Case Report.

机构信息

Dr Aziza Jahan, Resident, MD Paediatrics, Mymensingh Medical College (MMC), Mymensingh, Bangladesh; E-mail:

出版信息

Mymensingh Med J. 2021 Apr;30(2):555-558.

Abstract

Treacher collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant inherited disorder with variable expressivity. It affects mainly craniofacial structure that derives from 1st and 2nd branchial arches approximately between the 20th day and 12th week of intrauterine life. This syndrome has different clinical types. Most common features are antimongoloid slanting of the palpebral fissures, hypoplasia of zygoma, maxilla & mandible with various eye and ear abnormalities. Here we present a case of an 11 days old female neonate, who was ill looking, dyspnoeic having significant facial profile, multiple congenital anomalies and dolicocephaly; admitted in the department of Neonatology, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh on 7th August 2020. After taking all the diagnostic assistance of the multidisciplinary approach mainly on the basis of clinical features and radiology we diagnosed the case as TCS. We managed the patient by maintaining temperature, giving nutritional support and injectable antibiotic, took consultation from Otolaryngology department then we discharged the baby with proper counseling, advised regarding further follow up and to consult with paediatric surgeon and cardiologist.

摘要

特雷彻·柯林斯综合征(TCS)或弗朗切斯基综合征是一种常染色体显性遗传疾病,具有可变的外显率。它主要影响颅面结构,源自第一和第二鳃弓,大约在宫内生命的第 20 天至第 12 周之间。该综合征有不同的临床类型。最常见的特征是眼裂呈反蒙古样倾斜、颧骨、上颌骨和下颌骨发育不全,伴有各种眼部和耳部异常。这里我们介绍一个 11 天大的女婴病例,她在 2020 年 8 月 7 日入住孟加拉国迈门辛医科大学医院(MMCH)新生儿科时,表现为不适、呼吸困难、具有显著的面部特征、多种先天性异常和长头畸形。在多学科方法的所有诊断辅助下,主要基于临床特征和放射学,我们诊断该病例为 TCS。我们通过维持体温、给予营养支持和注射抗生素来治疗患者,咨询耳鼻喉科,然后在适当的咨询后为婴儿出院,建议进一步随访,并咨询小儿外科医生和心脏病专家。

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