Urtizberea J A, Testart H, Cartault F, Boccon-Gibod L, Le Merrer M, Kaplan F S
Hôpital d'Enfants, St Denis de la Réunion, France.
J Bone Joint Surg Br. 1998 Sep;80(5):768-71.
We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progressiva and Albright's hereditary osteodystrophy. The paucity of familial cases of progressive osseous heteroplasia currently limits the use of a genome-wide linkage analysis, but linkage exclusion analysis with promising candidate genes is a possibility.
我们报告了一例女性婴儿的进行性骨化性纤维发育不良病例，该婴儿皮肤和深部结缔组织出现进行性骨化。其父亲和妹妹存在孤立性皮肤骨化，提示为常染色体显性遗传模式，具有可变表达或可能的体细胞镶嵌现象。这例进行性骨化性纤维发育不良家族病例报告有助于加深对这种罕见遗传病的理解，该病必须与进行性骨化性肌炎和奥尔布赖特遗传性骨营养不良相鉴别。目前进行性骨化性纤维发育不良家族病例较少，限制了全基因组连锁分析的应用，但对有前景的候选基因进行连锁排除分析是有可能的。
