Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf, rubinstein taybi genereviews
Casa
rubinstein taybi genereviews

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

Por um escritor misterioso

Descrição
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.
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Chung–Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? - Conti - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 - Infante - 2017 - Clinical Case Reports - Wiley Online Library
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Cornelia de Lange syndrome: MedlinePlus Genetics
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Cornelia de Lange Syndrome: A Variable Disorder of Cohesin Pathology
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Wiedemann-Steiner Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Diagnostics, Free Full-Text
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Medical Home Portal - Cornelia de Lange Syndrome
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Figure 1. [Characteristic facial dysmorphisms in CDK13]. - GeneReviews® - NCBI Bookshelf
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Chromosome 5p13 Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect
de por adulto (o preço varia de acordo com o tamanho do grupo)