Cornelia de Lange Syndrome: A Chronicle Review

Sumithra Devadiga, Adarsh Adarsh VV, Bhagyashree Bhagyashree S, Bhagyashree Bhagyashree S, Savitha Savitha S, Ravikumar Nayak
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Abstract

Abstract: Cornelia de Lange disorder (CdLS) may be an intrinsic condition stamped by a characteristic facial appearance, pre-birth and postnatal development lacking, eating challenges, psychomotor delay, behavioral clutters, and concomitant upper limit distortions. W. Brachmann archived the primary case of CdLS in 1916, taken after Cornelia de Lange, a Dutch pediatrician, in 1933, after whom the clutter was named. In any case, not each individual with CdLS has the normal phenotype and can show in an assortment of ways, extending from gentle to severe and with shifting degrees of confront and appendage inclusion. The essential instrument behind CdLS has been hypothesized to be dysregulated quality expression. Surgery may be used to treat diaphragmatic hernias, heart anomalies, and/or cleft sense of taste in a few children. Over-the-top hair development could be decreased with plastic surgery. Keywords: Cornelia de Lange syndrome, Brachmann-de Lange syndrome, Craniofacial, Synophrys, Micrognathia.
科涅利亚·德·兰格综合征:历史回顾
摘要/ Abstract摘要:Cornelia de Lange disorder (CdLS)可能是一种以面部特征、产前和产后发育缺乏、饮食困难、精神运动迟缓、行为混乱以及伴随的上限扭曲为特征的内在疾病。1916年,w·勃拉赫曼(W. Brachmann)以荷兰儿科医生科妮莉亚·德·兰格(Cornelia de Lange)的名字命名了CdLS的第一例病例,并于1933年将其存档。在任何情况下,并不是每个CdLS患者都有正常的表型,并且可以以各种方式表现出来,从轻微到严重,并随着对抗和附属物的变化程度而变化。CdLS背后的基本工具被假设为失调的质量表达。手术可用于治疗膈疝,心脏异常,和/或味觉裂在少数儿童。通过整形手术可以减少头发的过度生长。关键词:Cornelia de Lange综合征,Brachmann-de Lange综合征,颅面,Synophrys,小颌畸形
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