P28.12: The recurrence of Galloway Mowat syndrome and associated prenatal imaging findings
نویسندگان
چکیده
منابع مشابه
Galloway-Mowat syndrome.
Galloway-Mowat syndrome is a rare multisystem genetic disorder with constellation of neurological, skeletal, growth, facial, gastrointestinal and renal abnormalities. This case report describes Galloway-Mowat syndrome in a young boy suffering from congenital microcephaly, developmental delay, seizures and various dysmorphic features in whom nephrotic syndrome became apparent at 5 years of age.
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Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glome...
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In this case report, we present the first diagnosed case of Galloway-Mowat syndrome in Iran. A 7 month old infant boy withmicrocephaly that had prominently stunted head growth afterbirth, gastroesophageal reflux, multiple craniofascial characters,hypothyroidism and nephrotic syndrome diagnosed at 5 monthsof age associated with rapid decline in renal function and heavyproteinuria in 2 months .
متن کاملinfant boy with microcephaly gastroesophageal reflux and nephrotic syndrome (galloway-mowat syndrome): a case report
in this case report, we present the first diagnosed case of galloway- mowat syndrome in iran. a 7 month old infant boy with microcephaly that had prominently stunted head growth after birth, gastroesophageal reflux, multiple craniofascial characters, hypothyroidism and nephrotic syndrome diagnosed at 5 months of age associated with rapid decline in renal function and heavy proteinuria in 2 mont...
متن کاملRecessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes. Children with nephrocerebellar syndrome had progressive microcephaly, visual impairment, stagnant psychomotor development, abnormal extrapyramidal movements and nephrosis. Fourteen died between ages 2.7 and 28 years, typically from renal failur...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics and Gynecology
سال: 2008
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.5959