Endocrine Abstracts

Short stature is a clinical sign noted in genetic syndrome.

Purpose: Molecular genetic characterization of children with short stature.

Objects and methods: The study involved 7 patients 3-15 yrs (3 boys and 4 girls) with short stature. Full clinical and molecular genetic research (Whole Exome or Genome Sequencing) was conducted.

Results: SDS height was from -2 to -4. All patients had multiple stigmas of dysembriogenesis, autistic behavior disorders, mental and speech development delay. In boys KBG syndrome (heterozygous mutation in the ANKRD11 gene on chromosome 16q24), Wiedemann-Steiner syndrome (mutation in the KMT2A gene on chromosome 11q23.3), Coffin–Siris Syndrome, type VI (mutation in the ARIDA gene on chromosome 12q12) were diagnosed. In girls De Grouchy syndrome, Yunis–Varon syndrome (mutation in the FIG4 gene on chromosome 6q21) was diagnosed. Two children with pronounced skeletal deformities and growth retardation were diagnosed with Brooke’s syndrome.

Conclusion: Short stature in children combined with stigmas of dysembriogenesis, autistic behavior disorders, mental and speech development delay is it is an indication for molecular genetic examination in order to diagnose rare genetic syndrome.