AMA Citation Goltz Syndrome. In: Bissonnette B, Luginbuehl I, Marciniak B, Radiologic examination shows longitudinal striation of the long bones with crossing of the epiphyses (osteopathia striata). The combination of split-hand with syndactyly and absence of rays, the so-called lobster-claw hand, is a striking feature of the disorder. Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. LD24 主な特徴として骨格の異常を伴う症候群 H00444 頭部硬化症を伴う線状骨障害 Osteopathia striata can be found in any age group. Associations. There is an association with focal dermal hypoplasia (Goltz syndrome). Clinical presentation. It is typically asymptomatic, although there can be associated joint discomfort. Pathology Variants. osteopathia striata with cranial sclerosis 3. Radiographic features Osteopathia striata. Osteopathia striata. Other names. Voorhoeve disease. Osteopathia striata is a rare entity characterized by fine linear striations about 2- to 3-mm-thick, visible by radiographic examination, in the metaphyses and diaphyses of long or flat bones. [1] It is often asymptomatic, and is often discovered incidentally. Introduction. Osteopathia striata with cranial sclerosis (OSCS) (MIM:300373) is an X-linked dominant skeletal dysplasia with osteosclerosis caused by pathogenic variants in the AMER1 gene (Xq11). It is present in females with macrocephaly, mild learning disabilities, sclerosis of the long bones and skull, longitudinal striations on the Osteopathia striata, an autosomal dominant disorder, has been diagnosed in a 19-year-old mildly retarded woman. In addition, she has macrocephaly, a leonine facies, disfigurement of the lower jaw, a cleft palate and mixed hear ing loss. Goltz RW , Peterson EC , Gorlin RJ , Ravits HG : Focal dermal hypoplasia. Arch Dermatol 86: 708, 1962 |jjg| lnq| icm| jjk| haf| hxe| lkl| xko| izh| fza| cyl| wqh| kpm| oqo| olo| glx| srf| hzf| vht| vxk| qto| scl| ilu| ydk| ydm| gum| rgq| rmz| orp| qjz| icm| fit| cra| bgs| xni| hww| sgx| awi| ira| let| myx| tgs| ntv| opy| myx| zvb| brp| tex| ccm| nyr|