{\rtf1\ansi\deff3\adeflang1025 {\fonttbl{\f0\froman\fprq2\fcharset0 Times New Roman;}{\f1\froman\fprq2\fcharset2 Symbol;}{\f2\fswiss\fprq2\fcharset0 Arial;}{\f3\froman\fprq2\fcharset204 Times New Roman;}{\f4\fswiss\fprq2\fcharset204 Arial;}{\f5\fnil\fprq2\fcharset204 Microsoft YaHei;}{\f6\fnil\fprq2\fcharset204 Mangal;}{\f7\fnil\fprq0\fcharset1 Mangal;}} {\colortbl;\red0\green0\blue0;\red128\green128\blue128;} {\stylesheet{\s0\snext0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049 \u1041\'c1\u1072\'e0\u1079\'e7\u1086\'ee\u1074\'e2\u1099\'fb\u1081\'e9;} {\s15\sbasedon0\snext16\sb240\sa120\keepn\dbch\af5\dbch\af6\afs28\loch\f4\fs28 \u1047\'c7\u1072\'e0\u1075\'e3\u1086\'ee\u1083\'eb\u1086\'ee\u1074\'e2\u1086\'ee\u1082\'ea;} {\s16\sbasedon0\snext16\sb0\sa120 \u1054\'ce\u1089\'f1\u1085\'ed\u1086\'ee\u1074\'e2\u1085\'ed\u1086\'ee\u1081\'e9 \u1090\'f2\u1077\'e5\u1082\'ea\u1089\'f1\u1090\'f2;} {\s17\sbasedon16\snext17\sb0\sa120\dbch\af7 \u1057\'d1\u1087\'ef\u1080\'e8\u1089\'f1\u1086\'ee\u1082\'ea;} {\s18\sbasedon0\snext18\sb120\sa120\noline\i\dbch\af7\afs24\ai\fs24 \u1053\'cd\u1072\'e0\u1079\'e7\u1074\'e2\u1072\'e0\u1085\'ed\u1080\'e8\u1077\'e5;} {\s19\sbasedon0\snext19\noline\dbch\af7 \u1059\'d3\u1082\'ea\u1072\'e0\u1079\'e7\u1072\'e0\u1090\'f2\u1077\'e5\u1083\'eb\u1100\'fc;} }{\info{\creatim\yr0\mo0\dy0\hr0\min0}{\revtim\yr0\mo0\dy0\hr0\min0}{\printim\yr0\mo0\dy0\hr0\min0}{\comment LibreOffice}{\vern3600}}\deftab709 \viewscale100 {\*\pgdsctbl {\pgdsc0\pgdscuse195\pgwsxn11906\pghsxn16838\marglsxn1134\margrsxn1134\margtsxn1134\margbsxn1134\pgdscnxt0 \u1054\'3f\u1073\'3f\u1099\'3f\u1095\'3f\u1085\'3f\u1099\'3f\u1081\'3f;}} \formshade\paperh16838\paperw11906\margl1134\margr1134\margt1134\margb1134\sectd\sbknone\sectunlocked1\pgndec\pgwsxn11906\pghsxn16838\marglsxn1134\margrsxn1134\margtsxn1134\margbsxn1134\ftnbj\ftnstart1\ftnrstcont\ftnnar\aenddoc\aftnrstcont\aftnstart1\aftnnrlc \pgndec\pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qc{\b\afs36\rtlch \ltrch\loch\fs36\lang1033 The c}{\b\afs36\rtlch \ltrch\loch\fs36\lang1058 ase }{\b\afs36\rtlch \ltrch\loch\fs36\lang1033 of}{\b\afs36\rtlch \ltrch\loch\fs36\lang1058 combination}{\b\afs36\rtlch \ltrch\loch\fs36\lang1033 of hypochondroplasia,}{\b\afs36\rtlch \ltrch\loch\fs36\lang1058 methylenetetrahydrofolate reductase }{\b\afs36\rtlch \ltrch\loch\fs36\lang1033 (}{\b\afs36\rtlch \ltrch\loch\fs36\lang1058 MTHFR}{\b\afs36\rtlch \ltrch\loch\fs36\lang1033 ) deficiency}{\b\afs36\rtlch \ltrch\loch\fs36\lang1058 and mitochondrial dysfunction} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qc{\b\afs32\rtlch \ltrch\loch\fs32\lang1033 L. M. Adamyan, Y. B. Grechanina, L. V. Molodan } \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qc{\i\afs28\rtlch \ltrch\loch\fs28\lang1033 Ukrainian Institute of clinical genetics of KNMU; Kharkiv Specialized Medical Genetic Centre, Kharkiv} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qc\i\afs28\rtlch \ltrch\loch\fs28\lang1033 \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\b\afs28\rtlch \ltrch\loch\fs28\lang1033 Background:}{\afs28\rtlch \ltrch\loch\fs28\lang1033 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.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\b\afs28\rtlch \ltrch\loch\fs28\lang1033 Case report:}{\afs28\rtlch \ltrch\loch\fs28\lang1033 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.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 In phenotype: a short stature (131 cm), nystagmus, a prominent forehead, hands and feet are wide; disproportionately short limbs, radiologically confirmed.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 In pedigree: a low growth in the mother and maternal grandfather.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 - Biochemical analysis of}{\afs28\rtlch \ltrch\loch\fs28 }{\afs28\rtlch \ltrch\loch\fs28\lang1033 serum: lactate dehydrogenase - }{\afs28\rtlch \ltrch\loch\fs28 \u8593\'3f}{\afs28\rtlch \ltrch\loch\fs28\lang1033 332.65 U/l, alkaline phosphatase - }{\afs28\rtlch \ltrch\loch\fs28 \u8593\'3f}{\afs28\rtlch \ltrch\loch\fs28\lang1033 380.4 U/l, gamma-glutamyl transferase - }{\afs28\rtlch \ltrch\loch\fs28 \u8593\'3f}{\afs28\rtlch \ltrch\loch\fs28\lang1033 47.84 U/l. } \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 - MTHFR 677 TT polymorphisms, the MTRR 66 AG gene.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 - Karyotype: 46, XY.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\afs28\rtlch \ltrch\loch\fs28\lang1033 Diagnosis: Hypochondroplasia. Pseudoarthrosis of the middle third of the diaphysis of the left femoral bone. Deficiency of the MTHFR enzyme. MTRR 66. Mitochondrial dysfunction.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj{\b\afs28\rtlch \ltrch\loch\fs28\lang1033 Conclusions:}{\afs28\rtlch \ltrch\loch\fs28\lang1033 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.} \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\qj\rtlch \ltrch\loch\lang1033 \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049\afs28\rtlch \ltrch\loch\fs28 \par \pard\plain \s0\nowidctlpar{\*\hyphen2\hyphlead2\hyphtrail2\hyphmax0}\cf0\kerning1\dbch\af8\langfe2052\dbch\af6\afs24\alang1081\loch\f3\fs24\lang1049{\rtlch \ltrch } \par }