The case of combination of hypochondroplasia, methylenetetrahydrofolate reductase (MTHFR) deficiency and mitochondrial dysfunction
L. M. Adamyan, Y. B. Grechanina, L. V. Molodan 
Ukrainian Institute of clinical genetics of KNMU; Kharkiv Specialized Medical Genetic Centre, Kharkiv

Background: 346 patients with skeletal abnormalities were examined at KSMGC since 2009 till 2013. Among them, 2 patients with concomitant signs of hypochondroplasia and metabolic disorders.
Case report: The patient D., 28 years old, complains of a low growth, shortening of the upper and lower extremities, an aching pain in the left hip. In 2012, as a result of injuries, pseudoarthrosis of the of the left femoral bone formed.
In phenotype: a short stature (131 cm), nystagmus, a prominent forehead, hands and feet are wide; disproportionately short limbs, radiologically confirmed.
In pedigree: a low growth in the mother and maternal grandfather.
- Biochemical analysis of serum: lactate dehydrogenase - ↑332.65 U/l, alkaline phosphatase - ↑380.4 U/l, gamma-glutamyl transferase - ↑47.84 U/l. 
- MTHFR 677 TT polymorphisms, the MTRR 66 AG gene.
- Karyotype: 46, XY.
Diagnosis: Hypochondroplasia. Pseudoarthrosis of the middle third of the diaphysis of the left femoral bone. Deficiency of the MTHFR enzyme. MTRR 66. Mitochondrial dysfunction.
Conclusions: The present case demonstrates the phenomenon of the combination of hypochondroplasia with signs of MTHFR deficiency and mitochondrial dysfunction, the last acquires the clinical significance for the development of individual complex rehabilitation.