Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 27 junho 2024
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Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Angelman Syndrome Factsheet, PDF, Genetics
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Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](https://journals.sagepub.com/cms/10.1177/1093526619834429/asset/images/large/10.1177_1093526619834429-fig5.jpeg)
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant - Jennifer Hague, Philip Twiss, Zoe Mead, Soo-Mi Park, 2019
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Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect - Genetics in Medicine
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Figure 1. [Characteristic facial dysmorphisms in CDK13]. - GeneReviews® - NCBI Bookshelf
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Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf
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Children, Free Full-Text
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Cornelia De Lange Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
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Figure 2. [Hands of a woman age]. - GeneReviews® - NCBI Bookshelf
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Kbg Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](https://journals.sagepub.com/cms/10.1177/1093526619834429/asset/images/large/10.1177_1093526619834429-fig1.jpeg)
Clinical Diagnosis of Classical Cornelia de Lange Syndrome Made From Postmortem Examination of Second Trimester Fetus With Novel NIPBL Pathogenic Variant - Jennifer Hague, Philip Twiss, Zoe Mead, Soo-Mi Park, 2019
![Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf](http://malacards.blob.core.windows.net/network-images-v5-17-5/cri_du_chat_syndrome_related_diseases.jpg)
Cri-Du-Chat Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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X-linked Cornelia de Lange Syndrome - Remembering a dysmorphology case in Neonatology
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