SOFT Syndrome: The First Case in Iran
Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a...
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Wolters Kluwer Medknow Publications
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doaj-345c4dc662464825897eb5e3a0da5f012020-11-25T00:22:26ZengWolters Kluwer Medknow PublicationsAdvanced Biomedical Research2277-91752018-01-017112812810.4103/abr.abr_13_18SOFT Syndrome: The First Case in IranNeda MostofizadehMahshid GheidarlooMahin HashemipourElham Hashemi DehkordiPrimordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a subtype of PD. Only 20 cases of SOFT syndrome have been reported in world to date, but none of them were not in Iran. Our case was 6.5-year-old girl with a complaint of growth retardation including height of 97 cm (Z = −4.6 standard deviation [SD]) and weight of 14 kg (Z = −4 SD) referred to growth clinic. She had a prominent forehead, triangular face, short limbs, malformed nails, and crowded teeth and her psychomotor function was normal. Laboratory and karyotype tests were normal while she was homozygous for c.G491A mutation of POC1A gene thus SOFT syndrome diagnosis was confirmed for her and recombinant growth hormone therapy was discontinued.http://www.advbiores.net/article.asp?issn=2277-9175;year=2018;volume=7;issue=1;spage=128;epage=128;aulast=MostofizadehGrowth retardationprimordial dwarfismshort statureSOFT syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Neda Mostofizadeh Mahshid Gheidarloo Mahin Hashemipour Elham Hashemi Dehkordi |
spellingShingle |
Neda Mostofizadeh Mahshid Gheidarloo Mahin Hashemipour Elham Hashemi Dehkordi SOFT Syndrome: The First Case in Iran Advanced Biomedical Research Growth retardation primordial dwarfism short stature SOFT syndrome |
author_facet |
Neda Mostofizadeh Mahshid Gheidarloo Mahin Hashemipour Elham Hashemi Dehkordi |
author_sort |
Neda Mostofizadeh |
title |
SOFT Syndrome: The First Case in Iran |
title_short |
SOFT Syndrome: The First Case in Iran |
title_full |
SOFT Syndrome: The First Case in Iran |
title_fullStr |
SOFT Syndrome: The First Case in Iran |
title_full_unstemmed |
SOFT Syndrome: The First Case in Iran |
title_sort |
soft syndrome: the first case in iran |
publisher |
Wolters Kluwer Medknow Publications |
series |
Advanced Biomedical Research |
issn |
2277-9175 |
publishDate |
2018-01-01 |
description |
Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a subtype of PD. Only 20 cases of SOFT syndrome have been reported in world to date, but none of them were not in Iran. Our case was 6.5-year-old girl with a complaint of growth retardation including height of 97 cm (Z = −4.6 standard deviation [SD]) and weight of 14 kg (Z = −4 SD) referred to growth clinic. She had a prominent forehead, triangular face, short limbs, malformed nails, and crowded teeth and her psychomotor function was normal. Laboratory and karyotype tests were normal while she was homozygous for c.G491A mutation of POC1A gene thus SOFT syndrome diagnosis was confirmed for her and recombinant growth hormone therapy was discontinued. |
topic |
Growth retardation primordial dwarfism short stature SOFT syndrome |
url |
http://www.advbiores.net/article.asp?issn=2277-9175;year=2018;volume=7;issue=1;spage=128;epage=128;aulast=Mostofizadeh |
work_keys_str_mv |
AT nedamostofizadeh softsyndromethefirstcaseiniran AT mahshidgheidarloo softsyndromethefirstcaseiniran AT mahinhashemipour softsyndromethefirstcaseiniran AT elhamhashemidehkordi softsyndromethefirstcaseiniran |
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