DeCure for Smith-McCort dysplasia

Additional three patients with Smith‐McCort dysplasia due to novel <i>RAB33B</i> mutations

AbstractSmith-McCort dysplasia (SMC OMIM 615222) and Dyggve-Melchior-Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in DYM (OMIM 607461). Both disorders share the same skeletal phenotypes characterized by spondylo-epi-metaphyseal dysplasia with distinctive lacy ilia. The difference rests on the presence or absence of intellectual disability, that is, intellectual disability in DMC and normal cognition in SMC. However, genetic heterogeneity was suspected in SMC. Recently, RAB33B (OMIM 605950) has been identified as the second gene for SMC. Nevertheless, only two affected families have been reported so far. Here we present three SMC patients with four novel pathogenic variants in RAB33B, including homozygosity for c.211C>T (p.R71*), homozygosity for c.365T>C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C>T (p.Q164*). We also summarize the clinical, radiological, and mutation profile of RAB33B after literature mining. This report ascertains the pathogenic relationship between RAB33B and SMC. © 2017 Wiley Periodicals, Inc.

Marshall–Smith syndrome and septo‐optic dysplasia: An unreported association

AbstractMarshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. Less than 40 cases have been reported in the literature, mostly as single case reports or small series. We describe a female newborn who, in addition to demonstrating many of the well described features of Marshall-Smith syndrome, had septo-optic dysplasia.

Smith-McCort-Syndrom

AbstractAn 13-year-old mentally normal boy with short-trunked dwarfism is discribed as a case of the Smith-McCort syndrome (SMC-syndrome). His disease has been observed radiologically, clinically an histologically for many years. According to Spranger (23) this disorder differs from the Dyggve-Melchior-Clausen disease (DMC-syndrome) by lacking oligophrenia. Beside a characteristic flattening of the vertebral bodies both syndromes show a lacelike appearance of the iliac crest (crest sign) as a significant radiological sign. Both syndromes appear to be inherited as an autosomal recessive trait.

AbstractSmith-McCort dysplasia is a disorder with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome but with normal intelligence and no microcephaly. Although both are associated with mutations in the Golgi protein DYMECLIN, genetic heterogeneity has been suspected for SMC. The study describes an SMC patient with a loss-of-function mutation in the GTP-binding domain of RAB33B, which is involved in Golgi trafficking. These data confirm the genetic heterogeneity of SMC and highlight the role of Golgi transport in the pathogenesis of SMC/DMC.

SKELETAL ANOMALIES AND BEYOND: A CASE REPORT OF DYGGVE MELCHIOR CLAUSEN DISEASE WITH SMITH MCCORT DYSPLASIA

AbstractDyggve Melchior Clausen (DMC) syndrome is an unusual form of uncommon autosomal recessive skeletal dysplasia.After its first occurrence in 1962, there has only been a hundred case reports to date with a mean incidence rate of0.1 per million.1 This article presents an account on a rare case report of Dyggve-MelchiorClausen disease combined with Smith Mccort Dysplasia.

Smith-McCort variant syndrome: A rare case with associated enamel hypoplasia

AbstractThe Smith-McCort syndrome (SMC), which was first described by Smith and McCort in 1958, is a rare form of osteochondrodysplasia, specifically a spondyloepimetaphyseal dysplasia. It is one of the rare syndromes that can present with skeletal dysplasia and mimic some of the common bone diseases. Enamel hypoplasia is a part of this disorder. Literature that describes the orofacial characteristics of this syndrome is lacking. Here we report a case of a 23-year-old female, who presented with characteristic orofacial features, along with skeletal abnormalities.