A ultrassonografia no diagnóstico pré-natal de displasia tanatofórica: relato de caso
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Data
2014-09
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Resumo
The thanatophoric dysplasia (TD) is considered the most frequent form of lethal chondrodysplasia, being a dwarfism with autosomal
dominant form of inheritance. The objective of this article is report a case of a newborn with prenatal TD diagnosis.
Ultrasound showed short limbs and pulmonary hypoplasia, without face defects. 32-year-old pregnant, had 2 pregnancies,
1 birth and 0 abortion earlier, GA: 28 weeks, went to the tertiary maternity during premature labor. The patient had vaginal
delivery, birth of male newborn with Apgar 4/8; was necessary neonatal resuscitation, invasive mechanical ventilation (IMV)
and use of surfactant. Capurro: 32s6d. The newborn kept with IMV due to the restrictive thoracic anatomy and pulmonary
hypoplasia, developed early-onset neonatal sepsis and, subsequently, late-onset neonatal sepsis. Doppler ultrasound reported
a patent foramen ovale, mild pulmonary hypertension and patent ductus arteriosus, without repercussion. Currently, with four
months of life, the newborn remains on ventilator assistance and difficulty to weaning. Prenatal diagnosis permits the individualization
of obstetric and pediatric behavior, prevention of complications during pregnancy, psychological support, appropriate
perinatal care and genetic counseling.
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Displasia tanatofórica, Displasias esqueléticas, Diagnóstico pré-natal, Ultrassonografia, Thanatophoric dysplasia, Ultrasound, Skeletal dysplasias, Prenatal diagnosis
Citação
SOARES, Leonardo R. et al. A ultrassonografia no diagnóstico pré-natal de displasia tanatofórica: relato de caso. RBUS: revista brasileira de ultra-sonografia, Goiânia, v. 17, p. 38-41, 2014.