ABSTRACT
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder, characterized by upper limb dysplasia and congenital cardiac defect. We report two cases with HOS, first associated with renal agenesis, coronal hypospadias, urethral duplication and second associated with duodenal atresia and horseshoe kidney that have not been reported in English literature.
ABSTRACT
We report the case of a newborn girl with intestinal cystic lymphangiomatosis who presented with abdominal distension and intra-abdominal bleeding following a prenatal ultrasound diagnosis of intestinal anomaly. Postnatal abdominal ultrasound revealed disseminated submucosal and intramural cystic dilatations of various sizes in the bowel and intestinal lymphangiomatosis was diagnosed. The presence of severe bleeding diathesis and widespread disease led to conservative treatment. The patient died on postnatal day 7 and postmortem examination confirmed cystic lymphangiomatosis. Detection of intestinal hyperechogenicity and/or dilatation in prenatal ultrasonography and the persistence of these findings during pregnancy are suggestive for pathologies such as meconium ileus, meconium peritonitis, and intestinal atresia. Although rare, intestinal lymphangiomatosis should be kept in mind in patients whose prenatal sonographic findings persist until birth.
