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塞克尔综合征:在布基纳法索苏鲁·萨努大学医院中心儿科观察到的一例病例。

The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso).

作者信息

Ouattara Ad Bafa Ibrahim, Barro Makoura, Nacro Sahoura Fatimata, Traoré Ibraïma, Sanogo Bintou, Diallo Jean W, Nacro Boubacar

机构信息

Pediatrics Department.

Odonto- Stomatology Department.

出版信息

Pediatr Rep. 2020 Apr 7;12(1):8231. doi: 10.4081/pr.2020.8231. eCollection 2020 Feb 11.

Abstract

Seckel syndrome-1 or "bird-headed dwarfism", Online Mendelian Inheritance in Man number 210600, is a rare genetic disease with an autosomal recessive transmission. We report a female child of 56 months diagnosed with SCKL1 at the Pediatric department of the University Hospital Center Sourou Sanou, Burkina Faso. She showed the typical features including facial dysmorphism, dwarfism, microcephalus and mental retardation. Ophthalmic and dental anomaly and extremities were associated. Without a codified etiological treatment, a psychotherapist support, a genetic counseling, a regular pediatric follow-up, a quarterly odontostomatological and ophthalmological follow- up have been recommended.

摘要

塞克尔综合征1型或“鸟头侏儒症”,《人类孟德尔遗传在线》编号210600,是一种罕见的常染色体隐性遗传疾病。我们报告了一名56个月大的女童,在布基纳法索苏鲁·萨努大学医院中心儿科被诊断为SCKL1。她表现出典型特征,包括面部畸形、侏儒症、小头畸形和智力迟钝。还伴有眼科和牙科异常以及四肢问题。由于没有规范化的病因治疗方法,建议提供心理治疗师支持、遗传咨询、定期儿科随访、每季度进行口腔和眼科随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7cba/7160856/00d7fbc5a9d5/pr-12-1-8231-g001.jpg

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