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Background Geleophysic dysplasia is an extremely rare autosomal recessive acromelic skeletal dysplasia characterized by short stature and short limbs, joint contracture and cardiac involvement. It has been described worldwide in less than 40 patients. We describe the cardiac involvement in three girls of a Saudi family who showed different severity of the cardiac involvement. Clinical description Three sisters referred from general pediatrics over a period 5 years, because of dysmorphic features and heart murmur. The parents are first degree cousins, they have a boy who is now 3 years old and is quite normal in regard of his growth and development. The older sister is 8 years old, the next is six years, and the third is two years old. All three girls were born full term spontanous delivery and had history of respiratory problems with frequent hospital admissions. They are all short for their ages (less than 3rd centile). Furthermore they share dysmorphic features in a form of small hands and feet, hypertelorism, depressed nasal bridge and anteverted narse. They all have contracture at both elbows and knees with inability to flex all to full range of flexion. They are happy and very friendly children, mentally normal and seem to be intellectually appropriate for their age. Genetic studies were done which confirmed the heterogenicity of the ADAMTSL2 gene in the older child. The three girls have associated cardiac lesions with different expression. The older has a mild pulmonary and aortic valve stenosis, the second has thicking of mitral valve and the youngest moderate to severe aortic and pulmonary valve stenosis. Discussion Geleophysics dysplasia (GD) has been described in 1960 as a form of atypical gargoylism by Vanace et al. and described by Spranger et al 1971 as a focal mucopolysacchriodosis. The disease is now considered as a severe form of acromelic skeletal dysplasia which is a rare form of dysplasia including three disorders: geleophysic dysplasia, Weill-Marchesani and acromicric dysplasia. Up to date there are less than 40 reported cases with GD. All of these patients have a combination of cardiac valve involvement. The most frequent cardiac lesions described being the mitral valve, then the aortic valve followed by pulmonary valve and the least is tricuspid valve. Spranger described one girl with atrial septal defect(ASD) and patent arterial duct (PDA) without valvular involvement. Pontz and Santolaya seperately described 5 cases with normal cardiac structure. Until todate there is a believe that the valve involvement show progression over time. Conclusions There are very few case reports describing the cardiac involvement in this condition but none is from the Middle East. Almost most of the cardiac conditions affect the cardiac valves in a form of thickening leading to stenosis in one or more of the cardiac valves. Most of the cases suggest progression of the disease. In our three cases the younger has the most severe form of valve involvement. This suggests that the expression of the gene could determine the severity of the disease, rather than the suggested progression with age. |
