Spondyloepipheseal dysplasia tarda
<p>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....
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| Format: | Book |
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Annals of Musculoskeletal Medicine - Peertechz Publications,
2023-04-18.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_amm_000030 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Raisa Altaf |e author |
| 700 | 1 | 0 | |a Rabiya Siraj |e author |
| 700 | 1 | 0 | |a Ramsha Fatima Qureshi |e author |
| 700 | 1 | 0 | |a Uzma Panhwer |e author |
| 700 | 1 | 0 | |a Hina Naseer |e author |
| 700 | 1 | 0 | |a Khansa Abro |e author |
| 245 | 0 | 0 | |a Spondyloepipheseal dysplasia tarda |
| 260 | |b Annals of Musculoskeletal Medicine - Peertechz Publications, |c 2023-04-18. | ||
| 520 | |a <p>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.</p> | ||
| 540 | |a Copyright © Raisa Altaf et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Case Report |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/amm.000030 |z Connect to this object online. |