CASE REPORT SKELETAL DYSPLASIA DR. SANDRA KIMANI, MMED ORTHOPAEDIC SURGERY UON FACILITATOR: DR. MICHAEL MARU, CONSULTANT ORTHOPAEDIC SURGEON PCEA KIKUYU HOSPITAL

History R.N, 11yr old, first presented to KNH at 5weeks after sustaining a trivial arm injury noted to have sustained a humerus fracture which was treated in Kenyatta National hospital, Noted to have abnormal dentinogenesis with multiple dental caries. no visual abnormalities and abnormal discoloration of the sclera. At the age of 2 months, sustained a femoral fracture and was managed conservatively in a hip spica at KNH Over the years he has sustained close to nine fractures has been on follow up at the KNH and PCEA kikuyu mission hospital Positive maternal history of a similar condition.

History Milestones: no history obtained as both parents passed on. Perinatal history: physical examination at birth revealed both upper and lower limb deformities. No medical advice was sorted Immunization history: up to date. Family history: Informant was the maternal uncle, child is an orphan, mother (a single parent) passed on due to pneumonia related complications, no known paternal history of congenital anomalies or dysplasia

Physical examination Fair general condition, short stature, normal facies with several dental caries and immature teeth Axial skeleton: pes carinatum with scoliosis Upper limbs: bilateral cubitus varus with right arm deformity Lower limbs: left lower limb shortening approximately an inch, anterior bowing of the left leg. Eyes: Brown sclera, visual acuity normal Rest of the systemic examination was essentially normal.

Management 19/6/2015: left femur Sofield’s osteotomy and hip Spica placement 26/6/2016: left femur osteotomy and exchange wiring Currently patient is being rehabilitated on a wheelchair and orthotic brace for ambulation and physiotherapy.

Postoperative imaging

Follow up

OSTEOGENESIS IMPERFECTA Also known as Brittle bone disease, Lobstein disease, blue sclera syndrome or fragile bone disease It is one of the most common skeletal dysplasias Local data: in Kenya high incidence from the Eastern region (37.54%) In Africa: high in Zimbabwe among the Shona and Ndebele people Pathologic changes are seen in tissues of which type 1 collagen. The defect is qualitative and quantitave reduction in type 1 collagen OI due to quantitatve defects are as a result of mutations on the COL1A gene resulting in reduced amounts of normal collagen type1 OI due to qualitative defects are as a result of mutations in COL1A or the COL1B gene resulting in production of normal and mutant chains.

A generalized disease of connective tissue that may manifest itself with: blue sclerae Triangular facies Macrocephaly Hearing loss Defective dentition Barrel chest Scoliosis Limb deformities Fractures Joint laxity Growth retardation

REFERENCES GC Mwangi & JT Macharia(2016) Pattern of distribution of patients presenting with osteogenesis imperfecta at AIC cure Children's International Hospital, Kijabehttps://www.ajol.info/index.php/eaoj/article/viewFile/137379/126940 L X G Stephen, T Roberts, E van Hayden, M Chetty (2016)Osteogenesis imperfecta type III in South Africa: Psychosocial challengeswww.samj.org.za/index.php/samj/article/view/11005 Viljoen D, Beighton P. (1987)Osteogenesis imperfecta type III: an ancient mutation in Africa? https://www.ncbi.nlm.nih.gov/pubmed/3425600