Year: 2024
Type: article
Abstract: Klippel Feil Syndrome is a very rare disease with three different types of presentations. Most of the cases commonly show the clinical triad of short neck, low posterior hair line, and limited neck movements. But less than 50% of all patients show all these three clinical features. We are reporting a very rare case of 12-year-old male patient presenting with neck and body pains for duration of two months. Whole spine CT revealed complete assimilation of anterior & posterior arches of C1 vertebra with clivus and occipital bones, defect at left posterior arch of C1, Aplastic right posterior elements and hypoplastic dens of C2 vertebra. Plain CT chest revealed hypoplastic right 1st and 3rd ribs with widened intercostal spaces at the levels of these hypoplastic ribs. There are only two great vessels arising from the arch of aorta which are left subclavian artery and a common trunk which is giving off, right brachiocephalic trunk and left common carotid artery and where again the brachiocephalic trunk is dividing normally into the right subclavian and right common carotid arteries. Plain CT and MRI abdomen revealed empty left renal fossa and with a 5.7×2.2 cm sized kidney with hilum facing anteriorly noted in right lumbar region [which is small sized, ectopic in location and malrotated left kidney]
Authors: Sandhya Jalagam, Anusha Nareddy, Adimulam Josthsna, Seggam Deepthi
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W6930695627
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