1. SPONDYLOEPIPHESEAL DYSPLASIA TARDA: A CASE REPORT.
- Author
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Altaf, Raisa, Siraj, Rabiya, Qureshi, Ramsha Fatima, Panhwer, Uzma, Naseer, Hina, and Abro, Khansa
- Subjects
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DYSPLASIA , *POSTURE disorders , *STUNTED growth , *GENETIC counseling , *CLEFT palate , *CLUBFOOT - Abstract
Skeletal disorders are common entities that we encounter in our daily practice. Their early diagnosis is a key to proper management and genetic counselling. Spondyloepiphyseal dysplasia is one such disorder. It is a genetic bone deformity that affect spine, proximal epiphysis and pelvis. The disease is either manifested at birth or during adolescent therefore given the terms SED congenita or SED tarda. Patients with SED presents with variable features including short height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. We also present a case of 11 year old boy who presented to us with complain of stunted growth and abnormal posture and underwent radiological imaging. [ABSTRACT FROM AUTHOR]
- Published
- 2023