A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene

J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):91-94. doi: 10.4274/jcrpe.3238. Epub 2016 Oct 31.

Abstract

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T425Nfs*40 [corrected] mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature.

Publication types

  • Case Reports

MeSH terms

  • Cytoskeletal Proteins / genetics*
  • Dwarfism / diagnosis
  • Dwarfism / drug therapy
  • Dwarfism / genetics*
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Growth Hormone / therapeutic use
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Karyotype
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / drug therapy
  • Muscle Hypotonia / genetics*
  • Mutation*
  • Parents
  • Spine / abnormalities*

Substances

  • Cytoskeletal Proteins
  • OBSL1 protein, human
  • Growth Hormone

Supplementary concepts

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