Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities. (57/59)

This study examined rates of concomitant structural and chromosomal abnormalities in 14 fetuses with a diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age, compared to 14 fetuses with a diagnosis of Dandy-Walker malformation or variant between 21 weeks' gestation and delivery. A total of 24 fetuses had Dandy-Walker malformation and four had Dandy-Walker variant. Eight of the fetuses with the malformation had ventriculomegaly: one of the fetuses with early diagnosis and seven with later diagnosis (p = 0.027). None of the fetuses with Dandy-Walker variant had ventriculomegaly. The overall prevalence of concomitant structural abnormalities was 13/28; 8/14 for fetuses with early prenatal diagnosis and 5/14 for fetuses with late prenatal diagnosis of the malformation or the variant. Chromosomal abnormality rates were significantly higher among fetuses with early prenatal diagnosis (7/14) than among those with later prenatal diagnosis (1/14; p = 0.032). Abnormal karyotypes were more prevalent among fetuses without ventriculomegaly (7/20), compared to fetuses with ventriculomegaly (1/8). We conclude that fetuses with an antenatal diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age have worse prognosis than fetuses with a later prenatal diagnosis of the same defect.  (+info)

Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. (58/59)

We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive.  (+info)

Ventriculoperitoneal shunt knot: a rare cause of bowel obstruction and ischemia. (59/59)

Small-bowel obstruction caused by knotting of a peritoneal shunt catheter is an extremely rare and severe complication of a ventriculoperitoneal (VP) shunt. In the 1-week-old female infant reported here who had a VP shunt, inability to remove the peritoneal catheter was followed by small-bowel obstruction and necrosis due to intestinal strangulation in a tight loop of the catheter. An uncomplicated primary resection of the necrotic segment was followed by placement of a temporary ventriculoatrial shunt. The authors suggest that when withdrawal of the peritoneal part of a VP shunt meets with resistance, an intraoperative radiograph should be obtained to assess the position of the remaining catheter. If knotting is observed, an attempt to straighten the catheter with a guide wire is worthwhile. Should this fail, immediate laparoscopy or laparotomy is indicated.  (+info)