𝔖 Bobbio Scriptorium
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A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals

✍ Scribed by Nicola J. Rose; Katrina Mackay; Peter H. Byers; Raymond Dalgleish

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
624 KB
Volume
3
Category
Article
ISSN
1059-7794

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✦ Synopsis

Clinical Data on Patients

KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at birth and continued to fracture periodically. At the age of 35 she was 94 cm tall, walked with the help of a cane, and had slightly blue sclerae and diminished hearing.

PJ was identified as having skeletal anomalies in utero at 15 weeks gestation when short limbs were detected. X-rays taken in the perinatal period demonstrated diminished calvarial mineralisation but no wormian bones, thin cortices of all long bones, marked bowing of both femurs, recent fracture of the right humeral shaft, narrow thoracic cage, but no acute or healing rib fractures. By age 5 years he was not able to walk due to multiple and recurrent

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