RESUMO
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.
Assuntos
Adulto , Feminino , Humanos , Gravidez , Braço , Cromossomos Humanos Par 7 , Fenda Labial , Fissura Palatina , Holoprosencefalia , Hipertrofia , Prosencéfalo , UltrassonografiaRESUMO
Uterine didelphys with unilateral hematometra, hemicolpos, and ipsilateral renal agenesis is a rare m01lerian duct malformation. Uterine didelphys with an obstructed hemivagina is frequently associated with renal agenesis, mostly ipsilateral to the blind vaginal pouch. Accurate early diagnosis and septal resection elevate pregnancy rate and birth rate but it is difficult to find these malfomations until the complication associated with pregnancy was developed. We report a case of successful gestational outcome in the presence of preterm labor due to hematometrocolpora caused by uterine didelphys with unilateral imperforated vagina and ipsilateral renal agenesis with brief review of the literatures.