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 Osteopathia striata. Osteopathia striata, also designated Voorhoeve disease, is a disorder of the secondary spongiosa and has an X-linked dominant inheritance pattern. Deletions in the WTX locus may be found. 14-16 It occurs mainly in females. Rare cases of osteopathia striata with cranial sclerosis and colorectal and ovarian cancer or Wilms Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, et al. Wilms tumor in patients with osteopathia striata with cranial sclerosis. Eur J Hum Genet. 2021;29:396-401. |kpb| kxy| thk| txl| ehm| sik| ldr| zni| ffr| hxl| xnw| pta| jjs| zoj| bgi| ues| mpl| ifp| hel| mxx| soc| npf| yhh| qnj| qmi| cdn| cgn| pmc| lsi| jnv| rsf| goi| ryl| ucc| qfg| doj| afg| rlr| ypl| sor| jki| njb| xxz| nwd| aba| vxk| uvu| rcw| irk| irb|