Matić Aleksandra, Velisavljev-Filipović Gordana, Lovrenski Jovan, Gajdobranski Djordje
Srp Arh Celok Lek. 2016 Jul-Aug;144(7-8):431-5. doi: 10.2298/sarh1608431m.
Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder, with only 75 cases described in the literature to date. CCMS is characterized by association of micrognathia and specific multiple rib defects. It is accompanied by mental deficiency in considerable number of cases. Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development, and growth impairment. Depending on severity of deformities and consecutive respiratory insufficiency, in about 35–50% of CCMS cases, death occurs during the first year of life. These cases are referred to as severe types of CCMS.
In this paper we present a female infant with severe type of CCMS. Diagnosis was established in the first day of life, based on micrognathia and findings of posterior rib-gap defects on the chest X-ray, accompanied by dyspnea. Progressive severe respiratory insufficiency caused by chest and air-way deformities and exacerbated by episodes of pneumonia, led to respiratory failure and death at the age of 7.5 months.
CCMS should be considered in every infant with micrognathia and rib-gap defects on chest X-ray.
脑-肋-下颌综合征（CCMS）是一种罕见疾病，迄今为止文献中仅描述了75例。CCMS的特征是小颌畸形与特定的多发肋骨缺陷相关联。相当一部分病例伴有智力缺陷。有时还会出现相关的异常和问题，如脊柱畸形、脑、心脏、肾脏或耳部异常、喂养困难、精神运动发育迟缓以及生长障碍。根据畸形的严重程度和随之而来的呼吸功能不全情况，约35%至50%的CCMS病例在出生后第一年内死亡。这些病例被称为重度CCMS类型。
本文报告一名重度CCMS女婴。出生第一天，根据小颌畸形以及胸部X线显示的后肋间隙缺损并伴有呼吸困难做出诊断。胸部和气道畸形导致进行性严重呼吸功能不全，并因肺炎发作而加重，最终在7.5个月大时导致呼吸衰竭死亡。
对于每一名有小颌畸形且胸部X线显示有肋间隙缺损的婴儿都应考虑CCMS。
