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Therapeutics and Clinical Risk... 2023The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for... (Review)
Review
The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.
PubMed: 36741589
DOI: 10.2147/TCRM.S338653 -
JBJS Reviews May 2022» Radial polydactyly is one of the most common congenital anomalies of the hand, with an incidence of 0.08 to 1.40 per 1,000 live births; it requires surgical treatment...
» Radial polydactyly is one of the most common congenital anomalies of the hand, with an incidence of 0.08 to 1.40 per 1,000 live births; it requires surgical treatment early in life.» Polydactyly occurs during weeks 5, 6, 7, and 8 of embryogenesis, principally due to misregulation of the sonic hedgehog protein within the developing limb bud.» The Flatt classification system of preaxial polydactyly (types I to VII), as published by Wassel, categorizes preaxial polydactyly based on osseous abnormalities, but it has substantial limitations.» For improved function and appearance, preaxial polydactyly ideally requires surgical intervention at an early age (between 1 and 2 years of age) before the development of fine motor skills.
Topics: Humans; Infant; Child, Preschool; Polydactyly; Thumb
PubMed: 37545004
DOI: 10.2106/JBJS.RVW.21.00214 -
The Journal of Hand Surgery, European... May 2021A significant lesson for those assessing the work of others stems from the necessity to review what has been written before. It remains a common but human error to...
A significant lesson for those assessing the work of others stems from the necessity to review what has been written before. It remains a common but human error to misinterpret or misrepresent the words of others and indeed, for inconsistencies in these to become apparent. This is certainly so in the field of congenital hand surgery and especially so with discussion of thumb duplication/polydactyly. Many of the presentations in this journal issue deal with the subject of thumb duplication. All involve a consideration of classification despite an emphasis on investigative measures and techniques in some. For ease of reading, I will place my comments on these articles within the categories of classification, investigations assisting management decisions and alternative techniques, though the contents of each article are not necessarily restricted to these categories.
Topics: Humans; Polydactyly; Plastic Surgery Procedures; Thumb
PubMed: 33626950
DOI: 10.1177/1753193421994778