American journal of medical genetics. Part A
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Am. J. Med. Genet. A · Oct 2009
Review Case ReportsTethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf-Hirschhorn syndrome. Report of two cases and review of the literature.
Wolf-Hirschhorn syndrome (4p-) is a rare disorder with characteristic physical findings. Neuroimaging findings are relatively scarce. We performed a literature search and found 22 reports of neuroimaging findings. ⋯ These cysts eventually fuse with the frontal horns during late infancy with enlargement of the frontal horns. Absence of other causes for periventricular cyst formation, such as perinatal distress, prematurity, or cytomegalovirus infection, appears to strengthen the association. With further studies, neuroimaging findings may eventually assist in the diagnosis of patients with Wolf-Hirschhorn syndrome.
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Am. J. Med. Genet. A · Aug 2009
Randomized Controlled TrialThe efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.
The objective of our study was to assess the efficacy and safety of donepezil in young adults with Down syndrome (DS) but no evidence of Alzheimer disease (AD). A 12-week, randomized, double-blind, placebo-controlled study with a 12-week, open-label extension was conducted. The intervention consisted of donepezil (5-10 mg/day) in young adults (aged 18-35 years) with DS, but no AD. ⋯ Efficacy interpretation was limited for the primary measure due to apparent learning/practice and ceiling effects. Outcomes in post hoc analyses suggested efficacy in some, but not all subjects, consistent with phenotypic variability of DS. Additional studies are required to confirm potential benefits of donepezil in this population.
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Am. J. Med. Genet. A · Jul 2009
Case ReportsAdditional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia.
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition.
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Am. J. Med. Genet. A · Jun 2009
Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
Peroxisomal biogenesis disorders represent a group of genetically heterogeneous conditions that have in common failure of proper peroxisomal assembly. Clinically, they are characterized by a spectrum of dysmorphia, neurological, liver, and other organ involvement. To date, mutations in 13 PEX genes encoding peroxins have been identified in patients with peroxisomal biogenesis disorders. ⋯ We show that they harbor two novel mutations in PEX13. One patient had a genomic rearrangement resulting in a 147 kb deletion that spans the whole of PEX13, while the other had an out-of-frame deletion of 14 bp. This represents the first report of a PEX13 deletion and suggests that further work is needed to examine the frequency of PEX13 mutations among Arab patients with peroxisomal biogenesis disorders.