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Review article


Ismet H. Bajraktari
Avni Kryeziu
Sylejman Rexhepi
Xhevdet Krasniqi

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Congenital osteochondrodysplasia is a rare inborn disorder of the development and growth of bone and cartilage.
Its incidence in children is 2–3/10,000.
We present the case of a female patient, born in 1952 from an unplanned pregnancy as the fourth child in the
family. At her birth the mother was 42 and the father 53 years old. At examination her body height was 152 cm and
body weight 87 kg.
She was hospitalized at our clinic because of pain in the spinal and peripheral joints from which she had been
suff ering since young age. Her father and uncle had similar problems. On physical examination the patient was obese
with a large scaphoid calvaria, a very high forehead, a nose with wide base, short trunk and extremities, especially the
arms with semi-contractures of the elbow joints and fi ngers of equal length. Th ere was a contracture of the right hip,
the feet were in disproportion with the rest of the body, while Lasegue’s test was positive on both sides at 30°. Th e
patient’s karyotype was 46 xx. Radiography of the hip joints showed varus deformations and pronounced sclerosis of
the femoral head. Th e knee radiographs were characterized by congenital deformities, and there were clinical and
radiographic signs of osteoarthritis. Radiographs of the lumbosacral spine and pelvis showed osteoporosis, hyperlordosis,
and a compression fracture of the L5 vertebral body. Total T-score of the hip on DEXA scan was –3.7.
Based on data from the history, physical examination, as well as clinical and laboratory fi ndings, we established
the diagnosis of congenital osteochondrodysplasia, a condition which should be considered and diagnosed as soon as
possible. Treatment of the disease is multidisciplinary and mainly symptomatic.


Osteochondrodysplasia – diagnostic image, genetics, Bone diseases, developmental – diagnostic image, genetics, Radiography

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