Noonan syndrome is an autosomal dominant disorder characterized by short stature, typical craniofacial features, and congenital heart defects. The underlying genetic defects were not clear until 2001. This report is the first to describe a molecular analysis and associated clinical features of a Turkish mother and son, who were clinically diagnosed as Noonan syndrome when the boy was referred t...

Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clin...

Two hundred and twenty seven children with a height below the 3rd or above the 97th centile were seen consecutively in the Oxford growth clinic. Their referral ages were analysed to determine the pattern of referral. Eighty seven per cent of the children had short stature. In 40% of these there was an organic reason for abnormal growth--the most common conditions being growth hormone deficiency...

This study compared birth stature, parents' stature, and food and nutrient intakes between normal and short stature Korean children visiting a growth clinic. A total of 143 growth clinic visitors agreed to participate in the study. Out of the 143 subjects, 37 children with height below the fifth percentile (short stature group) and 58 children with height above the twenty-fifth percentile (norm...

Accurate serial measurements of height and weight and an accurate record of growth are essential cornponents of the clinical evaluation of all children. Maintenance of a growth chart allows comparison of an individual child with a large population in terms of both percentile ranking and the determination of ‘ ‘ height age’ ‘ : the chronologic age at which the patient’s height falls on the 50th ...

objective the diagnosis of de morsier syndrome or septo-optic dysplasia is made on the basis of the diagnosis of optic nerve hypoplasia. septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often associated with a wide variety of brain malformations of cortical development. th...

'Dwarf stature' maize variety offers promises to withstand unfavorable growth environments of Kharif season. But, for developing such variety, dwarf stature inbred lines must be available. Here, twenty-four F3 populations of white maize were evaluated though assessment of their genetic variability, heritability, and character association for selection of dwarf stature promising lines based on y...

Short stature with loss of secondary sex characters can occur due to genetic disorders. One of them is Kallmann's syndrome. The condition has been noted to be present in families. It is associated with anosmia and hypogonadism. We are presenting a case of young boy who was short statured and had anosmia with multiple hormonal deficiencies.

Objective: Genetic polymorphisms in genes involved growth process and Vitamin-D metabolism form a significant etiology behind hormone deficiency short stature. The aim of this study was to explore for known unknown variants related stature family based using whole exome sequencing (WES).
 Method: This family-based included with members diagnosed deficiency, (four boys affected four non-aff...