Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent.
Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a form of short-limbed dwarfism that affects the skeleton and skin appendages. Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive syndrome. Metabolic consequences of chondroectodermal dysplasia have not been reported previously from India. We report a case of chondroectodermal dysplasia associated with metabolic disturbances qualifying a diagnosis of syndrome X. To our knowledge, this association has not been previously reported in the medical literature, and helps to unravel the metabolic association of this disorder.
Shamas
M Nasir
MN
Department of Endocrinology, Sheri-Kashmir Institute of Medical Sciences, Srinagar, J & K, India.
Zaman
Raja Sultan
RS
Mir
Shahnawaz
S
Masoodi
Ibrahim
I
Ganie
Mohd Ashraf
MA
D000015:Abnormalities, Multiple; D000293:Adolescent; D004613:Ellis-Van Creveld Syndrome / Q000150:complications*; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007194:India; D024821:Metabolic Syndrome / Q000150:complications*; D014071:Tooth Abnormalities / Q000150:complications