Cornelia De Lange Syndrome in Iraq

2020 ◽  
Vol 2 (02) ◽  
pp. 01-04
Author(s):  
Aamir Mosawi
Keyword(s):  
Mental Retardation ◽  
Male Patient ◽  
Growth Retardation ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Upper Lip ◽  
Nasal Bridge ◽  
Short Nose ◽  
Convergent Squint ◽  
Cornelia De Lange

Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of the syndrome is clinical. Ocular abnormalities that can be associated with Cornelia de Lang syndrome squint, nystagmus, refractive errors, and ptosis. Materials and methods: The occurrence of Cornelia de Lange syndrome has not been reported or well-documented. The first four Iraqi patients (Three boys and one girl) with Cornelia de Lange syndrome are described. The relevant literatures were reviewed with aim of determining the early documentation of the syndrome in the medical literatures. Results: All the patients were sporadic cases and had growth retardation, severe mental retardation with significant developmental delay, thick eye brows with some degree of synophrys, short nose with depressed or concave nasal bridge, and low set ears. All the patients had normal karyotype. One male patient had all of the classical features including long smooth and indistinct philtrum, thin upper lip vermilion, and downturned corners of mouth. The second male patient had a concave nasal bridge that becomes more obvious during crying, nystagmus and bilateral convergent squint. The third boy had milder dysmorphic features. The fourth patient was a girl who was the second of a twin. She had severe growth retardation and was hypotonic with poor head control. She also had bilateral convergent squint, refractive error, and reduction in visual acuity. Conclusion: The first four Iraqi patients with Cornelia de Lang syndrome are reported.

scholarly journals Cornelia de Lange syndrome in children

2016 ◽  
pp. 102-107
Author(s):  
T. E. Bubnevich
Keyword(s):  
Mental Retardation ◽  
Upper Limb ◽  
Growth Retardation ◽  
Postnatal Growth ◽  
Cornelia De Lange Syndrome ◽  
Facial Dysmorphism ◽  
Malformation Syndrome ◽  
Postnatal Growth Retardation ◽  
Live Births ◽  
Cornelia De Lange

Cornelia de Lange syndrome is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, thin lips, «carp» mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there are clinical options with milder phenotypes in this syndrome. The prevalence of the syndrome is 1:10,000-30,000 live births, occurs equally, regardless of gender. Although this syndrome is considered rare, experts agree that it is likely underdiagnosed.

Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant

2019 ◽  
Vol 22 (5) ◽  
pp. 475-479 ◽  
Author(s):  
Jennifer Hague ◽  
Philip Twiss ◽  
Zoe Mead ◽  
Soo-Mi Park
Keyword(s):  
Clinical Diagnosis ◽  
Upper Limb ◽  
Growth Retardation ◽  
Postmortem Examination ◽  
Pathogenic Variant ◽  
Cornelia De Lange Syndrome ◽  
Molecular Testing ◽  
Intrauterine Death ◽  
Second Trimester ◽  
Cornelia De Lange

Classical Cornelia de Lange syndrome (CdLS) is a rare genetic disorder which is associated with distinctive facial features, growth retardation, significant intellectual disability and global developmental delay, hirsutism, and upper-limb reduction defects. Classical CdLS is associated with pathogenic variants in NIPBL. We present a clinical diagnosis of classical CdLS made in a second trimester male fetus with advanced maceration who had undergone intrauterine death at 15 + 6 weeks gestation. The diagnosis was suspected after multiple congenital anomalies were identified on fetal postmortem examination. These included intrauterine growth retardation, upper limb anomalies, ventricular septal defect and diaphragmatic hernia, and skeletal and genitourinary abnormalities. Related prenatal screening findings included a raised nuchal translucency and low maternal serum pregnancy-associated plasma protein-A. Targeted molecular sequencing of genes associated with CdLS identified a novel de novo frameshift pathogenic variant in NIPBL, which confirmed the diagnosis. This report describes our case and reviews the current literature on prenatal diagnosis of CdLS. In summary, we demonstrate that clinical diagnosis of CdLS in a second trimester fetus, through postmortem examination findings, is possible, with confirmation through molecular testing.

scholarly journals Three-Dimensional Ultrasound Findings in Cornelia de Lange Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Yoichiro Akahori ◽  
Hisashi Masuyama ◽  
Yumi Masumoto ◽  
Yuji Hiramatsu
Keyword(s):  
Case Report ◽  
Fetal Growth ◽  
Three Dimensional ◽  
Cornelia De Lange Syndrome ◽  
Third Trimester ◽  
Nasal Bridge ◽  
Arterial Trunk ◽  
Ultrasound Findings ◽  
Breech Extraction ◽  
Cornelia De Lange

Introduction. The objective is to report a case of Cornelia de Lange syndrome (CdLS) diagnosed by detailed observations using three-dimensional sonography.Case Report. A 33-year-old healthy multipara was referred to our hospital at 34-week gestation after severe fetal growth restriction, congenital heart anomaly, and antebrachium abnormality were diagnosed during the third trimester. Further sonography diagnosis on cardiac abnormalities diagnosed the existence of ventricular septal defect in the outflow tract, atrioventricularis communis, and truncus arteriosus communis where the pulmonary artery branched from the common arterial trunk. As for abnormalities of the forearms, ectrodactylia and monodactylism were suspected and the abnormalities were observed sterically by using three-dimensional sonography. A 1986 g (1.07 percentile) male newborn was delivered by assisted breech extraction at 37-week gestation. After birth, from characteristic facies including bushy eyebrow, broad nasal bridge, micrognathia, and abnormalities of the forearms (ectrodactylia and monodactylism), the case was diagnosed with CdLS.Conclusion. Through detailed observation including abnormalities of fingers, we could exemplify this very rare disease as an antenatal diagnoses for fetal growth retardation.

scholarly journals Case Report: Atypical Cornelia de Lange Syndrome

F1000Research ◽  
2015 ◽  
Vol 3 ◽  
pp. 33
Author(s):  
Vito Leanza ◽  
Gabriella Rubbino ◽  
Gianluca Leanza
Keyword(s):  
Genetic Disorder ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Cornelia De Lange Syndrome ◽  
Saddle Nose ◽  
Nasal Bridge ◽  
Venous Dilatation ◽  
Cornelia De Lange ◽  
Increased Nuchal Translucency

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.

scholarly journals Classical Cornelia de Lange syndrome in a neonate

2021 ◽  
Vol 9 (12) ◽  
pp. 3710
Author(s):  
Abdul Tawab ◽  
Madhu George ◽  
Ann Mary Zacharias
Keyword(s):  
Developmental Disorder ◽  
Cornelia De Lange Syndrome ◽  
Heterozygous Mutation ◽  
Facial Dysmorphism ◽  
Preterm Newborn ◽  
Cardiac Defects ◽  
Multiple Systems ◽  
Limb Deformities ◽  
Cornelia De Lange ◽  
Gastrointestinal Abnormalities

Cornelia de Lange syndrome is a rare developmental disorder syndrome involving multiple systems characterized by facial dysmorphism limb deformities, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder range from mild to severe.  We present here a case of preterm newborn with Classical Cornelia de Lange syndrome with heterozygous mutation in NIBPL gene.

scholarly journals Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

2007 ◽  
Vol 80 (3) ◽  
pp. 485-494 ◽  
Author(s):  
Matthew A. Deardorff ◽  
Maninder Kaur ◽  
Dinah Yaeger ◽  
Abhinav Rampuria ◽  
Sergey Korolev ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cornelia De Lange Syndrome ◽  
Cohesin Complex ◽  
Cornelia De Lange

scholarly journals Classic Cornelia de Lange syndrome with variant of unknown significance detected in NIPBL gene mutation: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jay J. Desai ◽  
Sreelata B. Nair ◽  
S. Pappachan
Keyword(s):  
Mental Retardation ◽  
Clinical Features ◽  
The Body ◽  
Cornelia De Lange Syndrome ◽  
Unknown Etiology ◽  
Multiple Systems ◽  
South Indian ◽  
Indian Origin ◽  
Unknown Significance ◽  
Cornelia De Lange

Abstract Background Cornelia de Lange syndrome is a relatively uncommon disorder associated with multiple congenital anomalies/mental retardation of unknown etiology with its incidence varying from 1:10,000 to 1:50,000 live births in different population groups without any known racial predilections. Main clinical features of this syndrome consist of distinctive dysmorphic facial appearance, growth retardation, developmental delay, mental retardation, hirsutism, and skeletal formation anomaly. Case presentation This case presents a variation of unknown significance in the NIPBL gene-exon 39, chr5:37048649T>A c.6635T>A (p.Val2212Glu) with clinical phenotype of Cornelia de Lange syndrome. Our patient belonged to South Indian origin with clinical features of synophrys, micrognathia, long smooth philtrum, and clinodactyly with bilateral simian crease. Conclusion Cornelia de Lange syndrome is a rare but well-characterized disorder, in which multiple systems of the body are affected. It is important that the treating physician ensures coordination of the diversiform aspects of care in both childhood and adulthood. Proper and timely diagnosis using next generation sequencing helps in management and possibility of prenatal diagnosis.

scholarly journals Case Report: Novel NIPBL Variants Cause Cornelia de Lange Syndrome in Chinese Patients

2021 ◽  
Vol 12 ◽  
Author(s):  
Ying Peng ◽  
Changbiao Liang ◽  
Hui Xi ◽  
Shuting Yang ◽  
Jiancheng Hu ◽  
...  
Keyword(s):  
Growth Retardation ◽  
De Novo ◽  
Genetic Disorder ◽  
Snp Array ◽  
Nuchal Translucency ◽  
Chinese Patients ◽  
Cornelia De Lange Syndrome ◽  
Whole Exome ◽  
Limb Malformations ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. Mutation in the NIPBL gene accounts for nearly 60% of the cases. This study reports the clinical and genetic findings of three cases of CdLS from unrelated Chinese families. Clinically, all the three cases were classified as classic CdLS based on the cardinal (distinctive facial features and limb malformations) and suggestive (developmental delay, growth retardation, microcephaly, hirsutism, etc.) manifestations. SNP array detected a novel de novo heterozygous microdeletion of 0.2 Mb [arr[GRCh37]5p13.2(36848530_37052821) × 1] that spans the first 43 exons of NIPBL in the fetus with nuchal translucency thickening in case 1. Whole-exome sequencing in family trios plus Sanger sequencing validation identified a de novo heterozygous NIPBL c.5566G>A (p.R1856G) mutation in the fetus with intrauterine growth retardation in case 2 and a novel de novo heterozygous NIPBL c.448dupA (p.S150Kfs*23) mutation in the proband (an 8-month-old girl) in case 3. The cases presented in this study may serve as references for increasing our understanding of the mutation spectrum of NIPBL in association with CdLS.

Cornelia de Lange Syndrome: A Case Study

2002 ◽  
Vol 21 (3) ◽  
pp. 7-13 ◽  
Author(s):  
Melanie Melanie
Keyword(s):  
Growth Retardation ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Cognitive Limitations ◽  
Limb Reduction ◽  
Cornelia De Lange ◽  
The Many ◽  
Term Management

Cornelia de Lange syndrome (CdLS) is a rare dysmorphogenic disorder characterized by growth retardation, severe cognitive limitations, distinctive facial features, and limb reduction anomalies recognizable at birth. Currently, no single criterion is diagnostic for CdLS, and misdiagnosis is not uncommon. Long-term management of the infant with CdLS requires a coordinated effort among many different specialists. This article presents a general overview of Cornelia de Lange syndrome. It concludes with a case study illustrating the many problems infants with CdLS may have and the great amount of teaching and support that is needed by families affected by CdLS.

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