Three and a half year old boy with severe neurological damage secondary to perinatal ischaemic acute cerebrovascular accident (CVA). He came to the clinic with his mother, who reported unusual crying for some weeks and the suspicion that the child had pain in his hands. She also told us that the child had been receiving treatment with oral steroids for some weeks, as during the follow-up of his neurological damage, when consulting for locomotor system symptoms, chronic idiopathic arthritis was suspected, with normal X-rays of the hands and wrists.
He is an only child of non-consanguineous parents. The father has had a bone problem in his wrists since childhood; he recalls having suffered pain in his wrists as a child and tells us that he has no wrist bones, that he retains normal mobility and that this does not cause him any problems in his profession as a car driver.
The physical examination of the child is conditioned by his neurological damage (he shouts, without any other type of language and listens and attends when spoken to, smiling when caressed); he is not capable of ambulation without assistance; a left hemiplegia derived from his perinatal stroke and the typical signs of spasticity. Somatometry shows a head circumference of 46 cm (< P3), a length of 104 cm (P25-50) and a weight of 16.5 kg (P50). Blood pressure values are normal (111/66 mmHg). There are no dysmorphic features. The child's repeated attempts to bite his right wrist are striking. There are no inflammatory signs and the child expresses himself with groans on repeated mobilisation of the right wrist. No other joints were found to be affected.
The father is 180 cm tall, but his wingspan is reduced to 164 cm. His hand is 18.7 cm long (shortened by 4 cm for his height) with a third finger of 8.3 cm (normal). The paternal radiograph shows bilateral absence of the carpus.

The child's X-ray shows carpal lesions compatible with carpal osteolysis and unilateral tarsal scaphoid lesions.

The genetics service was consulted and the diagnosis of multicentric carpotarsal osteolysis of autosomal dominant transmission without nephropathy was studied and confirmed.