نتایج جستجو برای: severe short stature

تعداد نتایج: 752790  

2010
Nadezda Maksimova Kenju Hara Irina Nikolaeva Tan Chun-Feng Tomoaki Usui Mineo Takagi Yasushi Nishihira Akinori Miyashita Hiroshi Fujiwara Tokuhide Oyama Anna Nogovicina Aitalina Sukhomyasova Svetlana Potapova Ryozo Kuwano Hitoshi Takahashi Masatoyo Nishizawa Osamu Onodera

BACKGROUND Hereditary short stature syndromes are clinically and genetically heterogeneous disorders and the cause have not been fully identified. Yakuts are a population isolated in Asia; they live in the far east of the Russian Federation and have a high prevalence of hereditary short stature syndrome including 3-M syndrome. A novel short stature syndrome in Yakuts is reported here, which is ...

R Vakili

Average age at dianogsis,clinical features,and karyotype analysis of 40 girls with turner,s Syndrome (TS) were studied.the medical records of 40 girls with TS were reviewed for age at dianogsis.clinical features,karyotype analysis and erasons of admission in pediatric endocrinology ward.although lymphedema is the key to diagnosis in newborn period,none of the cases were diagnosed in infancy.the...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2014

Journal: :Archives of Disease in Childhood 1988

Journal: :The Indian Journal of Pediatrics 2010

Journal: :genetics in the 3rd millennium 0
hilda yazdan navid almadani ariana kaiminejad

ellis-van creveld syndrome is a very rare autosomal recessive skeletal dysplasia characterized by a short stature, short limbs, short ribs, postaxial polydactyly, dysplastic nails, multiple frenula, and congenital heart defects.  we describe a 22-year-old boy with a short stature, short limbs, short distal extremities, small teeth, short upper lip bound by frenula to the alveolar ridge, multipl...

Journal: :Archives of disease in childhood 2012
M J Wright M D Irving

Achondroplasia, one of the skeletal dysplasias and the commonest form of disproportionate short stature, has a different developmental and growth profile compared to average stature children. In addition, a specific group of complications occur more frequently in children with achondroplasia. These include common but usually relatively minor complications such as recurrent otitis media, and rar...

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