objective prader-willi syndrome (pws) is a genetic syndrome presenting with severe hypotonia and decreased agility. growth hormone (gh), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. the aim of this study was to find the effects of growth hormone on agility and strength of thes...

cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging,...

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...

Perawakan pendek banyak dijumpai pada anak-anak di Indonesia. dapat merupakan suatu varian normal ataupun abnormal. Faktor yang memengaruhi timbulnya perawakan anak antara lain faktor genetik, nutrisi, hormon, penyakit, psikologis, sosial ekonomi, dan lain-lain. Dampak berupa gangguan kognitif, psikososial, kualitas hidup kemudian hari. Short stature is common in children can be a or abnormal v...

Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline-like material in endocrine glands. We investigated ...