ESPID 2013
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Diagnostic Dilemma
Diagnostic Dilemma
Diagnostic Dilemma
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FIND DIAGNOSIS
FIND DIAGNOSIS
FIND DIAGNOSIS
Diagnostic Dilemma
Diagnostic Dilemma
Osteogenesis imperfecta
Author : Pediatric Oncall
Question
A 4½ years old boy presented with multiple fractures since 1½ months of age. He had fracture in bilateral arms at 1½ months of age without trauma. Second fracture in left leg and right clavicle occurred at 1½ years of age after jumping. At 3½ years of age, he had elbow dislocation after jumping. At 4 years of age he had fracture in right leg along with hairline fracture of right foe after falling down. Parents complain that he feels less pain, has loose teeth and has lost 4 teeth till now inspite of normal dentition. He also has excessive bruisability and bleeding. Birth history and milestones are normal. On examination, he is hyperactive, has blue sclera, flat facies, infantile voice, hyperextensible joints and hypotonia. His weight is 12 kg, height is 97 cm and arm span is 94 cms. His bone dexa scan shows severe osteoporosis.
Answers of this discussion
Author :- nadir brivkani on 29 January 2011.
Answer :- osteogenesis imperfecta

Author :- zohdi alhanouty on 29 January 2011.
Answer :- this is a combination of both : osteogenesis imperfecta and Ehler-Danlos disease

Author :- ANITA SINGH on 29 January 2011.
Answer :- kabuki syndrome

Author :- ahlam abbas on 30 January 2011.
Answer :- Osteogenesis Imperfecta,type one

Author :- shehla choudhry on 30 January 2011.
Answer :- Ehler Danlos Syndrome

Author :- mutassem alnofal on 30 January 2011.
Answer :- osteogenesis imperfecta

Author :- Inmaculada Puig on 30 January 2011.
Answer :- osteogenesis imperfecta

Author :- SONAL TIBDEWAL on 31 January 2011.
Answer :- osteogenesis imperfecta

Author :- Sumanth Amperayani on 01 February 2011.
Answer :- It could be Ehler Danlos Syndrome type IV

Author :- sonia mehra on 02 February 2011.
Answer :- oestogenesis imperfecta

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