Abnormal Facies, Myopia, and Short Stature

Abnormal facies, myopia, and short stature.

A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies.

Sandra C. (H.G. No. 214.1) was the result of a fullterm normal delivery on 14 June 1946. During the neonatal period she was noticed to be 'floppy', though subsequently her muscle tone gradually improved. She stood at 15 months, walked at 18 months, and began to talk at age 2 years. It was about this time that the deformities of her hands and feet were first noticed. Her childhood was uneventful...

Abnormal GH receptor signaling in children with idiopathic short stature.

Peripheral GH insensitivity may underlie idiopathic short stature in children. As the clinical and biochemical hallmarks of partial GH insensitivity have not yet been clearly elucidated, the identification of such patients is still difficult. We integrated functional, biochemical, and molecular studies to define the more reliable marker(s) of GH insensitivity. In particular, we measured GH rece...

Short and Tall Stature

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...

Syndromes with short stature

At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...