Fetal anomalies associated withHNF1Bmutations: report of 20 autopsy cases
نویسندگان
چکیده
منابع مشابه
Necrotizing enterocolitis report of 20 cases
Necrotizing enterocolitis is a disease of unknown origin. Epidemiological observations emphasize the potential roles of infection, enteric feeding and local vascular compromise of the Gastrointestinal tract in the pathogenesis of this disease. Clinical findings include signs of sepsis , plus abdominal distention , vomiting, bloody stool and occasionally , signs of intestinal perforation and pe...
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BACKGROUND Hemichorea/hemiballism associated with nonketotic hyperglycemia is a well-recognized syndrome, but few case series have been reported in the literature. CASE REPORT We describe 20 patients with hemichorea/hemiballism associated with hyperglycemia (9 males and 11 females) with mean age of 67.8 years. Ten patients had a previous diagnosis of type 2 diabetes mellitus, and one had type...
متن کاملPerinatal outcomes of polyhydramnios without associated congenital fetal anomalies after the gestational age of 20 weeks.
BACKGROUND Polyhydramnios carries a high rate of complications during pregnancy and adverse perinatal outcomes. We could find no studies of this condition in a large Asian population. The aim of this investigation was to evaluate the risks of adverse perinatal outcomes in a large study population with polyhydramnios without associated fetal anomalies after the gestational age of 20 weeks in Tai...
متن کاملAnomalies associated with single umbilical artery at perinatal autopsy.
We evaluated 214 fetuses sent for autopsy with gestational ages ranging from 12 to 39 weeks. Of these, seventeen fetuses (7.9%) had single umbilical artery. Thirteen of these fetuses were aborted after antenatal detection of severe malformations and 4 died in utero. Genito-urinary system (n=6) and central nervous system (n=4) were the most common sites of involvement. Presence of single umbilic...
متن کاملThe Wolf-Hirschhorn Syndrome in Fetal Autopsy - A Case Report -
Wolf-Hirschhorn syndrome (WHS) is one of multiple congenital anomaly/mental retardation (MCA/MR) syndromes and is caused by partial deletion of the short arm of chromosome 4, particularly in the Wolf-Hirschhorn syndrome critical region-1 (WHSCR1) and Wolf-Hirschhorn syndrome critical region-2 (WHSCR2), which are located in chromosome 4p16.3. Loss of these regions is indeed the cause of WHS, and...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2016
ISSN: 0197-3851
DOI: 10.1002/pd.4858