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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
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Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
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Journal Article
Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis
2011
Overview
Bohring–Opitz syndrome (BOS) is a rare congenital disorder of unknown etiology diagnosed on the basis of distinctive clinical features. We suggest diagnostic criteria for this condition, describe ten previously unreported patients, and update the natural history of four previously reported patients. This is the largest series reported to date, providing a unique opportunity to document the key clinical features and course through childhood. Investigations undertaken to try and elucidate the underlying pathogenesis of BOS using array comparative genomic hybridization and tandem mass spectrometry of cholesterol precursors did not show any pathogenic changes responsible.
Publisher
Springer International Publishing,Nature Publishing Group
Subject
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Children
/ Comparative Genomic Hybridization
/ Craniosynostoses - pathology
/ Craniosynostoses - physiopathology
/ Etiology
/ Female
/ Fundamental and applied biological sciences. Psychology
/ General aspects. Genetic counseling
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Humans
/ Infant
/ Intellectual Disability - genetics
/ Intellectual Disability - pathology
/ Intellectual Disability - physiopathology
/ Male
/ Malformations of the nervous system
/ Molecular and cellular biology
/ Mutation
/ Patients
