Osteogenesis imperfecta type V: A repost of two Filipino families and review of literature
Acta Medica Philippina
;
: 74-79, 2015.
Article
in English
| WPRIM
| ID: wpr-632830
ABSTRACT
Osteogenesis imperfecta (Ol) type V is distinct Ol phenotype that has recently been described. Patients with this phenotype present characteristically with interosseous membrane calcification and hyperplastic callus formation. We present the clinical and radiographic characteristics of two Filipino families diagnosed to have Ol type V. Through this review of cases, we aim to educate healthcare providers by highlighting salient clinical and radiographic features to aid in the recognition of this specific Ol phenotype, difficulties in diagnosis, current practices in management and fracture prevention, and issues in genetic counseling.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteogenesis Imperfecta
/
Patients
/
Phenotype
/
Bony Callus
/
Diagnosis
/
Genetic Counseling
Type of study:
Diagnostic study
Limits:
Humans
Language:
English
Journal:
Acta Medica Philippina
Year:
2015
Type:
Article
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