Prenatal diagnosis of fetal tetraphocomelia

Musculoskeletal defects of fetal limbs are rare. Causes of these abnormalities include amniotic band syndrome, exposure to teratogenic agents, illicit drug use, diabetes, and autosomal recessive inheritance. Tetraphocomelia is a rare congenital musculoskeletal malformation characterized by total or...

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Detalles Bibliográficos
Autores: Torres-Cepeda, Duly, Rondon-Tapia, Martha, Reyna-Villasmil , Eduardo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:Perú
Institución:Sociedad Peruana de Obstetricia y Ginecología
Repositorio:Revista Peruana de Ginecología y Obstetricia
Idioma:español
inglés
OAI Identifier:oai:ginecologiayobstetricia.pe:article/2374
Acceso en línea:https://ginecologiayobstetricia.pe/index.php/RPGO/article/view/2374
Access Level:acceso abierto
Palabra clave:Tetrafocomelia
Malformación musculoesquelética
Diagnóstico prenatal
Musculoskeletal malformation
Prenatal diagnosis
Descripción
Sumario:Musculoskeletal defects of fetal limbs are rare. Causes of these abnormalities include amniotic band syndrome, exposure to teratogenic agents, illicit drug use, diabetes, and autosomal recessive inheritance. Tetraphocomelia is a rare congenital musculoskeletal malformation characterized by total or partial agenesis of long bones of the extremities, causing that hands and feet to arise directly from fetal trunk. Its incidence is 0.62 cases per 100,000 live births. It can occur as an isolated defect, but also can occasionally be associated with craniofacial malformations and other systemic abnormalities. Prenatal ultrasound evaluation allows early diagnosis of all fetal abnormalities, including most musculoskeletal malformations. Diagnosis should be performed carefully and interpreted with caution, since the presence of other associated systemic abnormalities should be sought. A case of prenatal diagnosis of fetal tetraphocomelia is reported.