Cranio-Spondylo-Tubular Dysostosis

Severe overgrowth and tallness is very rare in human beings. The most common cause is gigantism due to the excessive secretion of the growth hormone, especially, before the closure of long bones’ epiphyseal growth plates. There are other rare disorders that are categorized on overgrowth syndromes. Herein, we report an extremely rare, or even perhaps a unique, patient from Iran. The clinical and skeletal findings were very unusual, with extensive clavarial, tubular, vertebral, ribs, and scapular overgrowth and synostosis. Indeed, the results of these abnormalities made a monstrous giant with a very tall stature. This is a unique case, which was living during 1912-1940 in Shiraz. The report’s information and photos, kindly supplied by Prof. Sheikholeslami. We evaluated thoroughly the findings together. Now we think; this is a very unusual case of its type, perhaps a Craniotubular Dysostosis Syndrome. We searched medical and clinical genetics literature, but did not find any similar case, having been reported before. So, to our knowledge, this is a unique case in the history of world medicine. We suggest to call this entity; “Siah-Khan syndrome” (after the patient’s name), or “ Ghorban-Sheikholeslami-Shafeghati syndrome” (in honour of Prof. Ghorban who was recently has died, or “ Cranio-Spondylo-Tubular Syndrome”.