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Incidence of fetal alcohol syndrome and prevalence of alcohol-related neurodevelopmental disorder.
TLDR
An operationalization of the Institute of Medicine's recent definition of ARND is proposed and its prevalence in Seattle for the period 1975-1981 is estimated to be at least 9.1/1,000, confirming the perception of many health professionals that fetal alcohol exposure is a serious problem.
CHARGE Association: An Update and Review for the Primary Pediatrician
TLDR
Diagnostic criteria that may define a concise, recognizable syndrome with a single pathogenetic basis are presented and the current understanding of the management for this complex and chronic multiple congenital anomaly condition is summarized.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
TLDR
Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
TLDR
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
TLDR
It is concluded that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
TLDR
Two PHS families with frameshift mutations in GLI3 that are 3′ of the zinc finger-encoding domains are reported, including one family with a de novo mutation, which implicate mutations inGLI3 as the cause of autosomal dominant PHS, and suggest that frameshIFT mutations of the GLi3 transcription factor gene can alter the development of multiple organ systems in vertebrates.
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
TLDR
Constutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations, finding no significant difference in mutation status was found.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
TLDR
A robust correlation of genotype and phenotype for GLI3 mutations is demonstrated and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis.
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
TLDR
It is found that filamin B is expressed in human growth plate chondrocytes and in the developing vertebral bodies in the mouse, indicating an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein.
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