Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndro...

Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and gen...

fryns-aftimos syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. we describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal problems (short stature, short fingers, flat feet) and mild intellectual...

Background: Fanconi anemia (FA) is a rare, autosomal recessive (AR) and multifactorial disorder. A high prevalence of FA observed in Iran is perhaps due to the high rate of consanguineous marriages. This study investigates the extent of short stature in patients with FA, the frequency of hypothyroidism in FA and the correlation between height and hypothyroidism. Methods: Eighteen patients with ...

background: fanconi anemia (fa) is a rare, autosomal recessive (ar) and multifactorial disorder. a high prevalence of fa observed in iran is perhaps due to the high rate of consanguineous marriages. this study investigates the extent of short stature in patients with fa, the frequency of hypothyroidism in fa and the correlation between height and hypothyroidism.   methods: eighteen patients wit...

The term idiopathic short stature (ISS) refers to short children with no identifiable disorder of the growth hormone (GH)/insulin like growth factor (IGF) axis and no other endocrine, genetic or organ system disorder. This heterogeneous group of short children without GH deficiency (GHD) includes children with constitutional delay of growth and puberty, familial short stature, or both, as well ...

celiac disease (cd) is an immune-mediated disorder resulting in nutrient malabsorption now thought to have a prevalence of 1:100 in the iranian population.symptoms of cd are included diarrhea, abdominal pain, steatorrhea, bloating, cramps, flatulence, weight loss, weakness and short stature. in addition to presenting symptoms, patients are also at increased risk of metabolic bone disease, lymph...