background  short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. this study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. materials and methods all children ...

Background  Short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. This study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. Materials and Methods All children ...

background robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. case report we describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

introduction hypothyroidism is the most common endocrine disorder in children and presented with various sign and symptoms; its diagnosis needs a high index of suspicion. case presentation we report 3 cases with unusual presentations of hypothyroidism and with delay in diagnosis that referred to pediatric endocrine outpatient clinic in mashhad university of medical sciences, mashhad, iran with ...

cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

distal renal tubular acidosis is a syndrome of abnormal urine acidification and is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciurea, nephrocalcinosis and nephrolithiasis. despite the presence of persistent hypokalemia, acute muscular paralysis is rarely encountered in males.here, we will report an eighteen year old male patient who presented with flaccid quadripar...

fanconi- bickel syndrome (fbs) is a rare type of glycogen storage disease (gsd) characterized by hepatomegaly, proximal renal tubular acidosis (rta) and marked growth retardation. we report a case of fbs presenting with diabetic ketoacidosis and transient neonatal diabetes. a female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated a...