3-M Syndrome: A Local Case Report

Am J Case Rep. 2019 Jan 9:20:36-38. doi: 10.12659/AJCR.912736.


BACKGROUND 3-M syndrome is an uncommon disease characterized by severe growth retardation, dysmorphic features, and skeletal abnormalities. Radiographic images may show delayed bone maturation long slender tubular bones, and tall vertebral bodies. Due to the inheritance mode of 3-M syndrome disease, early diagnosis is vital for genetic counseling. CASE REPORT In this case report, we present the case of a 3-year-old male patient who was referred to our clinic for development assessment due to delayed development, particularly speech, who had clinical outcomes of 3-M syndrome. CONCLUSIONS The aim of the case report is to add this new patient to the literature on 3-M syndrome.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Brain Stem / pathology
  • Cerebellum / pathology
  • Child, Preschool
  • Cullin Proteins / genetics
  • Developmental Disabilities / etiology
  • Dwarfism / diagnosis*
  • Genetic Variation
  • Homozygote
  • Humans
  • Male
  • Muscle Hypotonia / diagnosis*
  • Spine / abnormalities*


  • CUL7 protein, human
  • Cullin Proteins

Supplementary concepts

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