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A rare case of limb deficiency syndrome: Gollop WolfGang syndrome

Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congen...

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Detalles Bibliográficos
Autores principales: Hapani, Ronak, Shastri, Mona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203590/
https://www.ncbi.nlm.nih.gov/pubmed/34158891
http://dx.doi.org/10.1016/j.radcr.2021.05.025
Descripción
Sumario:Limb deficiency disorders are rare, etiologically heterogeneous skeletal dysplasias that occur as an isolated anomaly or as a part of a syndrome. The term limb deficiency incorporates both absence and size reduction of any of the 120 human limb bones, with around 205 identified abnormalities. Congenital absence of tibia is a rare and severe lower limb malformation with an incidence of approximately 1:1,000,000 live births. Absence of tibia with ectrodactyly (lobster claw deformity) or tibial hemimelia with split hand/foot malformation (TH-SHFM) or Gollop-Wolfgang complex is a rarer malformation with highly variable manifestations.