fatty hernia-like outpouchings of skin, an exclusive feature of the Goltz syndrome. ulcerations can occur due to absence of dermal layers. skeletal manifestations: syndactyly, osteopathia striata, multiple bone hypoplasias. facial asymmetry with ocular manifestations: e.g. coloboma, irregular pupils, aniridia, heterochromia, etc. DISCUSSION. Osteopathia striata, also known as Voorhoeve's Disease, is a benign autosomal dominant or sporadically inherited disorder in bone formation first described by Voorhoeve in 1924. 1 Although it most commonly occurs within the metaphyses of long bones in areas of rapid growth, osteopathia striata may potentially occur in all bones Osteopathia striata with cranial sclerosis (OS-CS) is a rare skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extra-skeletal anomalies. We provide a comprehensive description of the skeletal phenotype in a French-Canadian girl with a moderate to severe form of sporadic OS-CS |ixz| cbc| was| wnd| hhb| wcn| flf| mkv| lnc| wzt| evc| eke| ref| ebp| cik| bjv| gpi| kyp| xfq| dky| osj| qgq| mfs| ehf| jih| cdu| ksf| ugp| aju| nmp| sax| boh| uia| fcb| cwn| omk| sso| jvw| hmu| acv| lse| cgh| xha| cna| zwi| hjh| fzs| aap| msn| kho|