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Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent attacks of fever and inflammation of serosal surfaces. Unlike many mendelian disorders, the mode of transmission has been subject to some controversy as segregation analysis studies have always demonstrated fewer...
We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The...
Eleven patients with Angelman syndrome (AS) and their parents from 5 families have been studied with high resolution chromosome analysis and molecular probes from region 15q11‐13 in an attempt to elucidate the mode of inheritance in familial AS. No deletions were detected. All families were...
Simpson‐Golabi‐Behmel Syndrome (SGBS), an X‐linked encephalo‐tropho‐schisis syndrome described in fewer than a dozen families, is characterized by pre‐ and postnatal overgrowth, “coarse” face, minor facial anomalies and, in more severe cases, multiple congenital anomalies and...
We report on fetal hydrops presenting at 18 weeks of gestation and diagnosed as β‐glucuronidase deficiency. The parents were first cousins and there were 2 previous similar fetal deaths. β‐Glucuronidase was absent in cultured fetal fibroblasts and lymphoblasts but was normal in the tested...
Familial Mediterranean fever (FMF) is a genetic disease characterized by recurrent short episodes of fever, accompanied by peritonitis, pleuritis, or arthritis. The disease is almost completely ethnically restricted to patients of Mediterranean descent—Sephardic Jews, Armenians, Anatolian...
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