Case Report: Atypical Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. Vito Leanza ( ) Corresponding author: [email protected] Leanza V, Rubbino G and Leanza G. How to cite this article: Case Report: Atypical Cornelia de Lange Syndrome [version 2; referees: 1 2015, :33 (doi: ) approved, 2 approved with reservations] F1000Research 3 10.12688/f1000research.3-33.v2 © 2015 Leanza V . This is an open access article distributed under the terms of the , which Copyright: et al Creative Commons Attribution Licence permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) declared that no grants were involved in supporting this work. Grant information: Competing interests: No competing interests were disclosed. 31 Jan 2014, :33 (doi: ) First published: 3 10.12688/f1000research.3-33.v1 Referee Status: