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Multiple skeletal abnormalities in a newborn
Fitness Internal medicine

Multiple skeletal abnormalities in a newborn

2013-08-30 15.49.35  2013-08-30 15.52.17  2013-08-30 15.42.53  20130830_161456
6 day old baby was referred to KATH from Tafo Government Hospital, 45minutes from kumasi.baby presented at birth with multiple limb abnormalities present at birth. Baby was delivered  SVD at term, the second of a set of twins. Mother had an uneventful regular ANC and normal delivery
Examination : febrile, anicteric ,not pale, RR16  cpm, FAN, ICR HR 80, heart sounds I + II +0, louder on right hemithorax, Chest clear,  abdomen soft
Musculoskeletal : widened anterior fontanelle, slightly bulging eyes, blue tinge of sclera, abdnormally shortened limbs compared to the twin . Spinal deformity not obvious
Diagnosis :
1. Osteogenesis imperfecta,
2. Neonatal sepsis
Investigations : babygram, FBC, Blood for cultures and sensitivity
babygram (full body xray ) shows multiple limb shortenening and multiple fracture. Radiologist report noted several fractures on the long bones
Sepsis was managed succesfully with antibiotics and consult sent to orthopaedics surgeon
More update yet to come up on this case
Reading :http://en.wikipedia.org/wiki/Osteogenesis_Imperfecta
Credits : Mother and baby unit , KATH, Kumasi
Pictures taken and displayed with permission of parent for academic purposes only

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