RESUMEN
Poland’s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8‑year‑old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.
Asunto(s)
Niño , Humanos , India , Masculino , Músculos Pectorales/anomalías , Síndrome de Poland/epidemiología , Síndrome de Poland/genética , Sindactilia/epidemiología , Sindactilia/genéticaRESUMEN
Poland syndrome is a rare congenital anomaly classically consisting of unilateral hypoplasia of the sternocostal head of the pectoralis major muscle and ipsilateral brachysyndactyly. It was first described by Alfred Poland in 1840 and may occur with different gravity. Our patient is an eight‑year‑old Nigerian girl with left‑sided anterior chest wall defect with no detectable structural heart abnormality but presented with repeated episodes of syncopal attacks following minor trauma to the anterior chest wall.
Asunto(s)
Niño , Femenino , Humanos , Nigeria , Músculos Pectorales/anomalías , Síndrome de Poland/diagnóstico , Síndrome de Poland/epidemiología , Síndrome de Poland/etiología , Síndrome de Poland/genéticaRESUMEN
A síndrome de Poland tem etiologia desconhecida, e está relacionada à embriogênese da quinta à oitava semana de gestação, principalmente devido a malformações dos vasos sanguíneos, gerando distúrbios no desenvolvimento osteomuscular. No caso da síndrome de Moebius, cogita-se causa genética ligada ao cromossomo X, utilização de substâncias teratogênicas e abortivas durante a gravidez e diminuição da irrigação sanguínea com isquemia e necrose dos vasos sanguíneos do tronco cerebral, causando deformidades neurofuncionais ao feto. Alguns autores acreditam que as duas síndromes são independentes; outros, que são variações de uma mesma condição. As duas síndromes juntas formam um conjunto de sinais relacionados, como: deformidades ósseas e musculares, hipoplasias, agenesias, paralisias e disfunções dos pares cranianos, acompanhado de deficiência mental e disfunções respiratórias. O caso relatado conta com uma variedade de sintomas que caracterizam essas síndromes
Of unknown etiology, Polands syndrome is related to the embryogenesis in the fifth to eighth week of gestation, mainly due to malformations of blood vessels causing disorders in the musculoskeletal development. In the case of Moebius syndrome, possible etiologies include a X-linked chromosomal disorder, use of abortive and teratogenic substances during pregnancy, and decreased blood flow with ischemia and necrosis of blood vessels in the brainstem, causing neurofunctional deformities in the fetus. While some authors believe that the two syndromes are independent, others think that they are variations of the same condition. The two syndromes together form a set of related signals, such as muscle and bone deformities, hypoplasias, agenesis, paralysis and disorders of the cranial nerves, accompanied by mental retardation and respiratory disorders. This case has a variety of symptoms that characterize these syndromes