The most important characteristic of children
affected with geleophysic dysplasia is the presence of a pleasant,
happy-looking, round, full face and a high-pitched voice. However, the
facial characteristic has been suggested to not always be associated with a
“geleophysic” behavior. The short stature is associated with a normal head
circumference. The cardiovascular system is affected with cardiomegaly and
right ventricular hypertrophy leading to cardiac failure. The valvular
system presents with mitral and tricuspid valve stenosis, aortic valve
regurgitation, and/or stenosis. The respiratory system can be affected with
tracheal and bronchial stenosis. Usually, a significant pectus excavatum is
noted. The liver is highly affected by storage of mucopolysaccharides, and
hepatomegaly develops at an early age. The skeletal system shows osteopenia,
coxa valga, shortened long tubular bones, short hands, wrist
contractures, short metacarpals with rounded proximal ends, and short feet.
The skin is thickened and tight. The neurologic system may present important
developmental delay and seizure activity. Radiologically, the shape of the
sella turcica shows a characteristic J-form.