Spondylocarpotarsal synostosis: a rare case of vertebral segmentation defect.
Spondylocarpotarsal synostosis (SS) is a disorder of abnormal vertebral segmentation. Clinically manifest as kyphoscoliosis/scoliosis with characteristic radiographic findings vertebral, carpal and tarsal bone fusion. It is inherited as an autosomal recessive disorder. The present study report a case of SS and describe the clinical and radiological manifestations. In addition to classical signs, neuroimaging revealed cervical spine abnormalities, further supporting the importance of spine imaging in such cases.
Patil
Siddram J
SJ
Department of Medical Genetics, Naryana Hrudayalaya Institute of Medical Sciences, Bangalore, India. drsjpatil@gmail.com
Bhat
Meenakshi
M
Rao
Sanjay
S
Krishnan
R S Rama
RS
D002348:Carpal Bones / Q000002:abnormalities*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000150:complications / Q000473:pathology; D008279:Magnetic Resonance Imaging; D012600:Scoliosis / Q000150:complications / Q000473:pathology; D013166:Spondylitis / Q000150:complications*; D013580:Synostosis / Q000150:complications* / Q000175:diagnosis*; D013639:Tarsal Bones / Q000002:abnormalities*