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PURPOSE Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). The purpose of this study was to investigate the safety and efficacy of recombinant human GAA (rhGAA) enzyme therapy for this fatal disorder. METHODS The study was designed as a phase I/II, open-label,(More)
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with mental retardation. Although no uniform protocol replaces individual clinician judgement, the consensus recommendations were as follows: 1. The individual with(More)
Over the past decade, the reported incidence of autism spectrum disorders has continued to increase. Coincident with this, the number of referrals to clinical geneticists to identify the etiology has also dramatically increased. The reported diagnostic yield for autism spectrum disorders is commonly reported in the range of 6-15%. However, continued(More)
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported,(More)
OBJECTIVE This retrospective study describes the phenotype associated with the single most common cause of genetic hearing loss. The frequency of childhood deafness is estimated at 1/500. Half of this hearing loss is genetic and approximately 80% of genetic hearing loss is nonsyndromic and inherited in an autosomal recessive manner. Approximately 50% of(More)
The size of the corpus callosum was assessed visually and by computer-assisted image analysis in a series of 445 consecutive magnetic resonance imaging (MRI) scans in children under 17 years of age. Fifty individuals were subjectively identified with small corpora callosa on visual inspection of the MRI scans. Seven patients had true hypoplasia of the(More)
The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found(More)
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance and variable expressivity. Familial HPE has been reported in many families with autosomal dominant inheritance in some and apparent autosomal recessive inheritance in others. We have examined 125 individuals from nine families with(More)
The autism spectrum disorders are a collection of conditions, which have, in common, impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased markedly over the past decade. In addition, a large amount of attention has been paid to these conditions among lay and(More)
The autism spectrum disorders represent a collective of neurogenetic conditions that have in common altered socialization and communication. Much attention has been given lately to the marked increased in the reported incidence of these conditions. Significant debate also exists as to the basis of the reported increase. Regardless, clinical geneticists and(More)