Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 09 agosto 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.
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
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Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
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Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
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Mullegama-Klein-Martinez Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 – topic of research paper in Clinical medicine. Download scholarly article PDF and read for
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Angelman syndrome - Wikipedia
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Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf
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Cornelia de Lange syndrome in diverse populations - Dowsett - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library
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Diagnostics, Free Full-Text
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Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf
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Children, Free Full-Text
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Figure 1. [Characteristic facial dysmorphisms in CDK13]. - GeneReviews® - NCBI Bookshelf
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De Lange Syndrome
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