Two half-brothers with short stature secondary to growth hormone deficiency and a family history implicating X-linked transmission were studied extensively for other endocrine abnormalities. The proband had a normal physical examination, except for small stature and small external genitalia. ACTH and TSH release were normal. LH and FSH responses during an i.v. GnRH test were severely blunted. H...

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...

BACKGROUND De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. CASE PRESENTATION We describe, for the first time, a patient with severe short stature, learning difficu...

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...

Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.

Short or tall stature is primarily a normal variation of height. It is part of the continuum of the normal Gaussian distribution curve which defines the lower and upper limit of normal as the 3rd and 97th percentile. Within this context it is very important to differentiate normal variations in height and growth from pathological conditions. Normal variations in height are familial and idiopath...

Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...