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Phocomelia: Case report and differential diagnosis

While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multi...

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Detalles Bibliográficos
Autor principal: Osadsky, Captain Rasto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899934/
https://www.ncbi.nlm.nih.gov/pubmed/27307936
http://dx.doi.org/10.2484/rcr.v6i4.561
Descripción
Sumario:While rarely seen in the present-day Western world, phocomelia is not uncommon in underdeveloped countries. Phocomelia is an abnormality in which the limbs are not fully formed. It may be inherited as an autosomal recessive or dominant disorder. This case concerns a 12-year-old Afghan boy with multiple skeletal anomalies, most prominently of his right arm, including aplasia of the entire proximal humerus, hypoplasia of the clavicle and scapula, and absence of the radial ray and thumb. A hypoplastic left thumb was also present. Other anomalies included thoracic scoliosis, upper thoracic hemivertebrae, and mild cardiomegaly. The differential diagnosis and likely diagnosis are discussed.