Prenatal diagnosis of hypophosphatasia congenita using ultrasonography
Ultrasonography
;
: 83-86, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-731193
ABSTRACT
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present in the fetus of a 25-year-old female who came for an anomaly scan in her second trimester of pregnancy. Additional findings of generalized demineralization and osteochondral spurs led to the diagnosis of hypophosphatasia congenita. The pregnancy was terminated, and the findings were confirmed on autopsy. Common differential diagnoses with clues to diagnose the above mentioned condition have been discussed here. Early and accurate detection of this medical condition is important as no treatment has been established for this condition. Therefore, antenatal ultrasonography helps in diagnosing and decision making with respect to the current pregnancy and lays the foundation for the genetic counseling of the couple.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Segundo Trimestre del Embarazo
/
Diagnóstico Prenatal
/
Autopsia
/
Exostosis
/
Ultrasonografía Prenatal
/
Ultrasonografía
/
Toma de Decisiones
/
Diagnóstico
/
Diagnóstico Diferencial
/
Feto
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Inglés
Revista:
Ultrasonography
Año:
2016
Tipo del documento:
Artículo
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