Siminel Mirela Anişoara, NeamŢu Cristian Ovidiu, DiŢescu Damian, ForŢofoiu Mircea Cătălin, Comănescu Alexandru Cristian, Novac Marius Bogdan, NeamŢu Simona Daniela, Gluhovschi Adrian
Department of Hematology, Faculty of Medicine, University of Medicine and Pharmacy of Craiova, Clinical Laboratory, "Filantropia" Municipal Hospital, Craiova, Romania;
Rom J Morphol Embryol. 2017;58(1):277-280.
Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, when examining the morphology of fetal signs; the dysmorphism signs appeared in the third pregnancy quarter. We present here the case of a newborn with Apert syndrome that was born prematurely in our Clinic after a monitored pregnancy, where there was issued a suspicion of cranio-facial dysmorphism, malposition and malformation of the feet and hands in the third quarter of prenatal pregnancy. The diagnosis of Apert syndrome was placed on clinical signs, laboratory and genetic tests. The clinical outcome of the baby in the maternity was favorable, the therapeutic management being established by a multidisciplinary team. Immediate complications were due to the case of prematurity: respiratory distress syndrome and the characteristics of the syndrome: micrognathia and naso-facial dysmorphism, syndactyly, bilateral foot metatarsus adductus.
Apert综合征——尖头并指畸形——是一种罕见的常染色体显性疾病，在活产新生儿中的发病率为1:65000。Apert综合征的特征性畸形包括早期颅缝早闭、小颅面畸形以及手和足的第二至五指并指畸形，双侧拇指近节指骨呈“三角”状。在孕中期检查胎儿体征形态时，很难做出产前诊断；畸形体征在孕晚期才出现。我们在此介绍一例在我院经监测妊娠后早产的Apert综合征新生儿病例，产前孕晚期怀疑存在颅面畸形、手足位置异常和畸形。根据临床体征、实验室检查和基因检测确诊为Apert综合征。该婴儿在产科的临床结局良好，治疗管理由多学科团队制定。即刻并发症是由于早产：呼吸窘迫综合征以及该综合征的特征：小颌畸形和鼻面部畸形、并指畸形、双侧足内收跖骨。
