Pediatrics Commons^™

Rare Diagnosis Of Vaginal Atresia In A Patient With Vater Syndrome And Primary Amenorrhea, Doreen Kyere Md, Mph, Rochelle Steiner-Friel Md, Sarah Stevens Md, Mph

Department of Obstetrics & Gynecology

No abstract provided.

Hepatic Failure, Neonatal Hemochromatosis And Porto-Pulmonary Hypertension In A Newborn With Trisomy 21 - A Case Report, Erin Neil, Josef Cortez, Aparna Joshi, Erawati V. Bawle, Janet Poulik, Mark Zilberman, Mohammad F. El-Baba, Beena G. Sood

Wayne State University Associated BioMed Central Scholarship

Abstract

Liver failure in neonates is a rare but often fatal disease. Trisomy 21 is not usually associated with significant infantile liver disease. If present, hepatic dysfunction in an infant with Trisomy 21 is likely to be attributed to transient myeloproliferative disorder with hepatic infiltration by hematopoietic elements and may be associated with secondary hemosiderosis. A less commonly recognized cause of liver failure in neonates with Trisomy 21 is neonatal hemochromatosis (NH); this association has been reported in nine cases of Trisomy 21 in literature. NH is a rare, severe liver disease of intra-uterine onset that is characterized by neonatal …