Spondyloepipheseal dysplasia tarda

Raisa Altaf*, Rabiya Siraj, Ramsha Fatima Qureshi, Uzma Panhwer, Hina Naseer and Khansa Abro

Skeletal disorders are common entities that we encounter in our daily practice. Their early diagnosis is key to proper management and genetic counselling. Spondyloepiphyseal dysplasia is one such disorder. It is a genetic bone deformity that affects the spine, proximal epiphysis and pelvis. The disease is either manifested at birth or during adolescence therefore given the terms SED congenita or SED tarda. Patients with SED present with variable features including short height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. We also present a case of an 11-year-old boy who presented to us with complaints of stunted growth and abnormal posture and underwent radiological imaging.

Keywords:

Published on: Apr 18, 2023 Pages: 1-3

Full Text PDF Full Text HTML DOI: 10.17352/amm.000030
CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos Universite de Paris UW Libraries SJSU King Library SJSU King Library NUS Library McGill DET KGL BIBLiOTEK JCU Discovery Universidad De Lima WorldCat VU on WorldCat