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

2. 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.

3. 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

4. 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.

6. 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.

7. Postoperative imaging

8. Follow up

9. 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.

10. 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

11. REFERENCES
GC Mwangi & JT Macharia(2016) Pattern of distribution of patients presenting with osteogenesis imperfecta at AIC cure Children's International Hospital, Kijabehttps://
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?