A case of Kniest syndrome.
- Author:
Yoon Jong YOO
;
Ki Chan NA
;
Kyeong Rae MOON
;
Sang Kee PARK
;
Young Bong PARK
;
Keun Hong KEE
- Publication Type:Original Article
- Keywords:
Kniest syndrome;
Disproportionate dwarfism;
Stiff joint
- MeSH:
Animals;
Cartilage;
Cleft Palate;
Congenital Abnormalities;
Dwarfism;
Extremities;
Facies;
Hearing Loss;
Joints;
Lordosis;
Myopia;
Parturition
- From:Journal of the Korean Pediatric Society
1993;36(1):138-143
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The skeletal abnormalities are recognizable at birth with shortening and deformity of the extremities and stiff joints. Marked lumbar lordosis and kyphoscoliosis develop in childhood, resulting in disproportionate shortening of the trunk. We experienced a case of kniest syndrome, confirmed by clinical features, radiological features, and histological examination of cartilage. A brief review of the related literature is presented.
