Polymeropoulos M H, Ortiz De Luna R I, Ide S E, Torres R, Rubenstein J, Francomano C A
Nat Genet. 1995 Jun;10(2):238-9. doi: 10.1038/ng0695-238.
Pycnodysostosis (OMIM 265800) is an autosomal recessive skeletal disorder first described by Maroteaux and Lamy that is characterized by short stature, increased bone density, delayed closure of cranial sutures, loss of the mandibular angle, dysplastic clavicles, dissolution of the terminal phalanges of the hands and feet, dental abnormalities and increased bone fragility. Patients have a typical appearance secondary to prominence of the calvarium, smallness of the facial features, prominent nose and micrognathia. The French painter, Henri de Toulouse Lautrec (1864-1901), is believed to have had the disorder. Although more than 100 cases have been reported, we are aware of only two large consanguinous pedigrees in which the pycnodysostosis disorder segregates. We have studied the segregation of the pycnodysostosis phenotype in a large consanguinous Mexican pedigree, the clinical features of which are very similar to those described in the Arab pedigree studied by Edelson et al. Here, we report linkage for the pycnodysostosis phenotype in the 1cen-q21 region of human chromosome 1, and discuss candidate genes for this skeletal disorder.
致密性成骨不全症（OMIM 265800）是一种常染色体隐性遗传性骨骼疾病，最早由马罗泰克斯和拉米描述，其特征为身材矮小、骨密度增加、颅缝闭合延迟、下颌角消失、锁骨发育异常、手足末端指骨溶解、牙齿异常以及骨脆性增加。患者因颅骨突出、面部特征小、鼻子突出和小颌畸形而具有典型外貌。法国画家亨利·德·图卢兹·劳特雷克（1864 - 1901）被认为患有这种疾病。尽管已报道了100多例病例，但我们仅知晓两个致密性成骨不全症呈分离状态的大型近亲家系。我们研究了一个大型墨西哥近亲家系中致密性成骨不全症表型的分离情况，该家系的临床特征与埃德尔森等人研究的阿拉伯家系中所描述的非常相似。在此，我们报告人类1号染色体1cen - q21区域中致密性成骨不全症表型的连锁关系，并讨论这种骨骼疾病的候选基因。
