Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation

J Pediatr Endocrinol Metab. 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239.

Abstract

3-M syndrome is an underdiagnosed autosomal recessive disorder characterized by severe pre- and postnatal growth retardation with minimal dysmorphic features and distinguishing radiological findings. We report a patient who was first admitted at 7.5 years of age. He was born to consanguineous parents with a birth weight of 2250 g. Physical examination revealed a severe short stature (height, 95 cm; SD score -5.64) and minimal dysmorphic features. Biochemistry, endocrine work-up, and karyotype were normal. Reevaluation at 16.5 years of age revealed a height of 128.5 cm (SD score -5.27), prominent forehead, anteverted nasal openings, fleshy nasal tip, full lips, malar hypoplasia, hyperlordosis, prominent heels, testicular volumes 8-10 mL, and pubic hair consistent with Tanner stage II. Growth hormone trial for a year resulted in inadequate height gain (3 cm). The diagnosis of 3-M syndrome was made upon typical findings (thin long bones with diaphyseal narrowing and tall lumbar vertebrae) in a recent skeletal survey. Genetic analysis disclosed a homozygote frame shift mutation in exon 2: c.457_458delinsT resulting in p.Gly153fs.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Body Height / genetics
  • Child
  • Cytoskeletal Proteins / genetics*
  • Dwarfism / complications
  • Dwarfism / diagnostic imaging
  • Dwarfism / etiology
  • Dwarfism / genetics*
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Muscle Hypotonia / complications
  • Muscle Hypotonia / diagnostic imaging
  • Muscle Hypotonia / genetics*
  • Mutation, Missense / physiology
  • Radiography
  • Severity of Illness Index
  • Spine / abnormalities
  • Spine / diagnostic imaging

Substances

  • Cytoskeletal Proteins
  • OBSL1 protein, human

Supplementary concepts

  • Miller-McKusick-Malvaux-Syndrome (3M Syndrome)