title: Marinesco-Sjögren syndrome in a male with mild dysmorphism.
abstract: Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was recently mapped to chromosome 5q31, but there is evidence for genetic heterogeneity, and no gene has been identified. We report a 5-year-old male with cataracts, ataxia, a progressive cerebellar atrophy, developmental delay, seizures, hypotonia, and a sensorimotor neuropathy consistent with many cases of MSS. He also had mild craniofacial dysmorphism consisting of hypertrichosis and synophrys, deep-set eyes with epicanthic folds, a flat philtrum, a high palate, short thumbs, and a wide sandal gap between the first and second toes. Skeletal findings included an increased kyphosis. We reviewed the literature on MSS to determine if craniofacial dysmorphism and the presence of neuropathy and/or myopathy would prove to be diagnostically useful in this phenotypically heterogeneous condition. The majority of cases of MSS do not have craniofacial dysmorphism, but other cases have been reported with features such as ptosis or a myopathic facies that are likely to reflect the underlying myopathic or neuromuscular processes in MSS.
authors.affiliation: Department of Pediatrics, Division of Medical Genetics, University of California-San Francisco, 533 Parnassus Street, San Francisco, CA 94143-0748, USA. slavotia@peds.ucsf.edu
authors.forename: Anne
authors.initials: A
authors.lastname: Slavotinek
authors.forename: Jill
authors.initials: J
authors.lastname: Goldman
authors.forename: Kara
authors.initials: K
authors.lastname: Weisiger
authors.forename: Dana
authors.initials: D
authors.lastname: Kostiner
authors.forename: Mahin
authors.initials: M
authors.lastname: Golabi
authors.forename: Seymour
authors.initials: S
authors.lastname: Packman
authors.forename: William
authors.initials: W
authors.lastname: Wilcox
authors.forename: H Eugene
authors.initials: HE
authors.lastname: Hoyme
authors.forename: Elliott
authors.initials: E
authors.lastname: Sherr
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002386:Cataract / Q000473:pathology; D002524:Cerebellar Ataxia / Q000473:pathology*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D013132:Spinocerebellar Degenerations / Q000473:pathology*; D013577:Syndrome