نتایج جستجو برای: mowat syndrome
تعداد نتایج: 621961 فیلتر نتایج به سال:
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 .
Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, ...
In 1998, Mowat et al 1 delineated a syndrome with Hirschsprung disease (HSCR) or severe constipation, microcephaly, mental retardation, and a distinctive facial appearance. Because two of the patients had a cytogenetically visible deletion of 2q22-q23, 2 and all patients were sporadic cases, a contiguous gene syndrome or a dominant single gene disorder involving this locus were suggested. Two s...
In 1998, Mowat et al 1 delineated a syndrome with Hirschsprung disease (HSCR) or severe constipation, microcephaly, mental retardation, and a distinctive facial appearance. Because two of the patients had a cytogenetically visible deletion of 2q22-q23, 2 and all patients were sporadic cases, a contiguous gene syndrome or a dominant single gene disorder involving this locus were suggested. Two s...
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