Spondylometaphyseal dysplasia with characteristic facial appearance.
Despite expanding knowledge and technological advances there are patients whose diagnosis remains unknown, either due to failure to recognize previously reported cases, or because the patient represents an undescribed condition. The woman described in this paper has distinctive clinical signs and it is hoped this will lead to the rediscovery or recognition of similar cases.
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
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Hunter
D000293:Adolescent; D019066:Facies; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000473:pathology*; D011247:Pregnancy; D011859:Radiography