Stomnaroska Orhideja, Danilovski Dragan, Ivanovska Sanja
Medical Faculty Skopje, "Ss. Cyril and Methodius" University, Republic of Macedonia.
Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016.
We report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal. Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.
我们报告一名10天大的新生儿，患有短头畸形、面中部发育不全、并指畸形以及拇指和大脚趾远端指骨增宽。在孕20周时，常规超声检查发现左侧脑室扩大以及手部和足部手指畸形。上述畸形在出生时及11个月大时均被观察到。大囟门已闭合；小囟门在指尖可触及。短头畸形明显，前额饱满高耸、枕部扁平，尤其是冠状缝处有不规则颅缝早闭。双手（第二至五指）均有皮肤并指，第二、三、四指几乎完全融合。拇指远端指骨以及大脚趾远端指骨均增宽。足部有皮肤并指。11个月大时智力发育正常。Apert综合征是一种散发性疾病。很少有常染色体显性遗传。适当的治疗包括并指畸形的手术治疗，以及对最终可能出现的气道阻塞和听力困难进行随访。这是一例新生儿确诊病例的报告。
