Skeletal Dysplasia: Difference between revisions
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== Introduction == | == Introduction == | ||
Skeletal dysplasias also termed as ''osteochondrodysplasias'' are a large heterogeneous group of disorders comprising of abnormalities of bone or cartilage growth or texture. Skeletal dysplasia is a group of rare genetic disorders that affect bone growth and development. These disorders are characterized by abnormalities in the size, shape, and structure of bones, resulting in short stature, limb deformities, and other skeletal abnormalities. | |||
They occur due to genetic mutations and their phenotype continues to evolve throughout life. Skeletal dysplasias thus differ from ''dysostoses'' which are malformations of single or multiple bones in combination, are due to abnormal blastogenesis in-utero and phenotypically remain static throughout life.<ref>[https://pubmed.ncbi.nlm.nih.gov/12612812/ Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatric radiology]. 2003 Mar;33:153-61.</ref> | |||
== | == Epidemiology == | ||
About 1 in 5,000 babies are born with some type of skeletal dysplasia.<ref>Geister KA, Camper SA. A[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507692/ dvances in skeletal dysplasia genetics]. Annual review of genomics and human genetics. 2015 Aug 24;16:199-227.</ref> Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. | |||
== | == Etiology == | ||
Skeletal dysplasia is caused by mutations in genes that are responsible for bone growth and development. These mutations can be inherited from one or both parents, or they can occur spontaneously during fetal development. | |||
== Clinical Features == | |||
*bulleted list | *bulleted list | ||
*x | *x | ||
Revision as of 12:22, 26 March 2024
Original Editor - User Name
Top Contributors - Ayodeji Mark-Adewunmi and Kim Jackson
Introduction[edit | edit source]
Skeletal dysplasias also termed as osteochondrodysplasias are a large heterogeneous group of disorders comprising of abnormalities of bone or cartilage growth or texture. Skeletal dysplasia is a group of rare genetic disorders that affect bone growth and development. These disorders are characterized by abnormalities in the size, shape, and structure of bones, resulting in short stature, limb deformities, and other skeletal abnormalities.
They occur due to genetic mutations and their phenotype continues to evolve throughout life. Skeletal dysplasias thus differ from dysostoses which are malformations of single or multiple bones in combination, are due to abnormal blastogenesis in-utero and phenotypically remain static throughout life.[1]
Epidemiology[edit | edit source]
About 1 in 5,000 babies are born with some type of skeletal dysplasia.[2] Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection.
Etiology[edit | edit source]
Skeletal dysplasia is caused by mutations in genes that are responsible for bone growth and development. These mutations can be inherited from one or both parents, or they can occur spontaneously during fetal development.
Clinical Features[edit | edit source]
- bulleted list
- x
or
- numbered list
- x
References[edit | edit source]
- ↑ Offiah AC, Hall CM. Radiological diagnosis of the constitutional disorders of bone. As easy as A, B, C?. Pediatric radiology. 2003 Mar;33:153-61.
- ↑ Geister KA, Camper SA. Advances in skeletal dysplasia genetics. Annual review of genomics and human genetics. 2015 Aug 24;16:199-227.
