Treacher Collins syndrome – a case report

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY

Case Reports in Perinatal Medicine Pub Date : 2022-09-20 DOI:10.1515/crpm-2020-0009

Magda Fraszczyk-Tousty, A. Jankowska, J. Tousty, Piotr Tousty, B. Łoniewska

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Abstract

Abstract Objectives Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, is an autosomal dominant disorder of soft tissue and the craniofacial bones. In most cases, TCS is the result of a mutation in the TCOF1 gene. The incidence is estimated to be between 1/10,000 and 1/50,000 live births. Our purpose was to describe a case report of patient with TCS born in the Department of Neonatology at the Pomeranian Medical University in Szczecin (Poland) and his family with short review of literature. Case presentation Clinical abnormalities which were found after birth mainly affect the head – hypoplasia of the cheek bones and the zygomatic bones, micrognation, deformed auricles with undeveloped external auditory canals, retrognathia of the mandible, cleft hard and soft palate and narrow palpebral fissure. Conclusions The treatment of children with TCS is long-term. Patients require a series of reconstructive and plastic surgical procedures. Our patient presented the complete form of TCS. There are multiple surgeries awaiting him, which, eventually, will improve his quality of life.

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Treacher Collins综合征1例报告

【摘要】目的Treacher Collins综合征(TCS)，又称下颌面骨缺损、Franceschetti-Zwahlen- Klein综合征，是一种常染色体显性遗传病，主要发生于软组织和颅面骨。在大多数情况下，TCS是TCOF1基因突变的结果。据估计，发病率在1/10,000至1/50,000活产之间。我们的目的是描述一例在什切青(波兰)波美拉尼亚医科大学新生儿科出生的TCS患者及其家庭，并对文献进行简短的回顾。出生后出现的临床异常主要表现为头部发育不全，颧骨、颧骨发育不全，耳廓畸形，外耳道发育不全，下颌骨后突，软硬腭裂，睑裂狭窄。结论小儿TCS的治疗是长期的。患者需要进行一系列的重建和整形外科手术。我们的病人呈现完整的TCS形式。等待他的是多次手术，这些手术最终将改善他的生活质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Perinatal Medicine OBSTETRICS & GYNECOLOGY-

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期刊介绍： Case Reports in Perinatal Medicine is a double-blind peer-reviewed journal. The objective of the new journal is very similar to that of JPM. In addition to evidence-based studies, practitioners in clinical practice esteem especially exemplary reports of cases that reveal specific manifestations of diseases, its progress or its treatment. We consider case reports and series to be brief reports describing an isolated clinical case or a small number of cases. They may describe new or uncommon diagnoses, unusual outcomes or prognosis, new or infrequently used therapies and side effects of therapy not usually discovered in clinical trials. They represent the basic concept of experiences for studies on representative groups for further evidence-based research. The potential roles of case reports and case series are: Recognition and description of new diseases Detection of drug side effects (adverse or beneficial) Study of mechanisms of disease Medical education and audit Recognition of rare manifestations of disease.