A Newborn with Extremely Rare Cerebro-Costo-Mandibular Syndrome; A Case Report Study.

IF 1.2 4区医学 Q3 DENTISTRY, ORAL SURGERY & MEDICINE

Cleft Palate-Craniofacial Journal Pub Date : 2024-08-01 Epub Date: 2023-04-24 DOI:10.1177/10556656231170994

Arezou Mirfazeli, Reyhaneh Shariatalavi, Narges Lashkarbolouk, Dorna Lahoti, Mahdi Mazandarani

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引用次数: 0

Abstract

Background: Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital syndrome consisting of the main features of micrognathia and posterior rib gaps. Due to multiple abnormalities, patients almost have difficulty breathing with upper airway obstruction, decreased thoracic capacity, spina bifida, and scoliosis.

Case presentation: We describe a case of a late preterm neonate boy presenting with low Apgar, respiratory distress, and complicated orofacial anomalies that had a poor outcome. His radiographic findings showed mandibular hypoplasia (micrognathia), chest deformity, multiple posterior rib gap defects, and abnormal costotransverse articulation. Based on physical examination and radiologic findings, the diagnosis of CCMS confirmed for the patient.

Conclusion: Physicians should always consider the diagnosis of CCMS in all infants with micrognathia and rib-gap defects. These infants need careful respiratory function monitoring. Early airway management improves growth and development. In addition, their physical and psychological development should be assessed regularly.

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一名患有极其罕见的脑-下颌畸形综合征的新生儿；病例报告研究。

背景：脑-肋-下颌综合征（CCMS）是一种罕见的先天性综合征，主要特征是小颌畸形和肋骨后间隙。由于多种畸形，患者几乎会出现呼吸困难、上呼吸道阻塞、胸廓容量减小、脊柱裂和脊柱侧弯等症状：我们描述了一例晚期早产新生儿男孩的病例，该男孩出现低 Apgar、呼吸窘迫和复杂的口面部畸形，预后不佳。他的影像学检查结果显示下颌骨发育不良（小颌畸形）、胸部畸形、多处肋骨后间隙缺损以及肋横突关节异常。根据体格检查和放射学检查结果，患者确诊为 CCMS：结论：对于所有有小颌畸形和肋骨间隙缺损的婴儿，医生都应考虑 CCMS 的诊断。这些婴儿需要进行仔细的呼吸功能监测。早期气道管理可改善婴儿的生长发育。此外，还应定期评估他们的身体和心理发育情况。

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

Cleft Palate-Craniofacial Journal 医学-外科

CiteScore

2.70

自引率

36.40%

发文量

215

期刊介绍： The Cleft Palate-Craniofacial Journal (CPCJ) is the premiere peer-reviewed, interdisciplinary, international journal dedicated to current research on etiology, prevention, diagnosis, and treatment in all areas pertaining to craniofacial anomalies. CPCJ reports on basic science and clinical research aimed at better elucidating the pathogenesis, pathology, and optimal methods of treatment of cleft and craniofacial anomalies. The journal strives to foster communication and cooperation among professionals from all specialties.