RESUMO
This article reports 4 cases with cardiac rhabdomyomas diagnosed during intrauterine life. Echocardiographic follow-up at 9-30 months showed regression of the tumors in 3 cases (75%). Two cases (50%) developed tuberous sclerosis during that period. Fetal echocardiography promotes early diagnosis of tuberous sclerosis through prenatal detection of cardiac rhabdomyoma, and facilitates genetic counselling of families at risk.
Assuntos
Ecocardiografia , Feminino , Doenças Fetais/diagnóstico por imagem , Seguimentos , Neoplasias Cardíacas/complicações , Humanos , Linhagem , Gravidez , Diagnóstico Pré-Natal , Rabdomioma/complicações , Esclerose Tuberosa/complicaçõesRESUMO
We describe prenatal sonographic findings in a 34-week fetus with Jeune syndrome or asphyxiating thoracic dystrophy (ATD). The long bones measured were less than third percentile; the thoracic circumference (TC) measured 216 mm (< 2.5th percentile); the abdominal circumference (AC) measured 303.5 mm (50th-75th percentiles) and the rib cage perimeter (RCP) measured was 98 mm. The TC/AC was 0.70 (normal, 0.85) and the RCP/TC was 0.45 (normal, 0.68). Following birth diagnosis of Jeune syndrome was made based on radiographic analysis, which was subsequently confirmed by clinical and postmortem examination. This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax.