Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.
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DOI：
10.1002/jbmr.131
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发表时间：
2010-11
影响因子：
6.2
通讯作者：
Mumm, Steven
中科院分区：
文献类型：
--
作者：
Whyte, Michael P.;Wenkert, Deborah;McAlister, William H.;Novack, Deborah V.;Nenninger, Angie R.;Zhang, Xiafang;Huskey, Margaret;Mumm, Steven
骨质疏松症(DSS)是一种极其罕见的致密性骨病，以矮小和骨折为特征，有时伴有视神经萎缩、颅神经麻痹、发育迟缓和婴幼儿时期牙齿萌出失败并伴发骨化症(OPT)。儿童时期的骨组织学显示，由于破骨细胞作用不足，未被吸收的原发海绵组织。此外，所有椎体都有明显的进行性变平，青春期时，皮质骨变薄，干骺端出现矛盾的骨质减少。有关血缘关系的报道表明，常染色体隐性遗传，但男性比女性更容易受到X连锁隐性遗传的影响。我们调查了一名患有DSS的无血缘关系的女孩。骨硬化症在7个月大时被发现。我们的研究，从11到44个月，显示体重大约在50%，长度从大约30%减少到-2.3SD。头围为+4SD。患者有额部隆起，巩膜蓝色，牙齿正常，膝外翻，关节平淡。X线片显示眼眶和面部硬化，基底骨增厚，骨盆骨化，长骨端硬化，肋骨和四肢骨折。当椎体从卵圆形变为扁平，并在前方形成喙时，进行性干骺端增宽。血象正常。与OPT一致，血清甲状旁腺激素(PTH)浓度反映了饮食中的钙水平。血清骨碱性磷酸酶、骨钙素、TRACP-5b均低于正常。髂骨中含有过多的原发海绵，没有破骨细胞。氯通道7、T细胞免疫调节因子1、OPT相关跨膜蛋白1、单核细胞集落刺激因子(M-CSF)及其受体C-FMS、AnkH、OPG、RANK和RANKL基因的剪接位点或外显子均未发现突变。基因组拷贝数微阵列未揭示。因此，DSS是一种以儿童早期破骨细胞缺乏为特征的不明病因的独特选择。骨量减少如何发生是人类骨骼病理生物学的谜团。©2010美国骨与矿物研究学会。
Dysosteosclerosis (DSS), an extremely rare dense bone disease, features short stature and fractures and sometimes optic atrophy, cranial nerve palsy, developmental delay, and failure of tooth eruption in infancy or early childhood consistent with osteopetrosis (OPT). Bone histology during childhood shows unresorbed primary spongiosa from deficient osteoclast action. Additionally, there is remarkable progressive flattening of all vertebrae and, by adolescence, paradoxical metaphyseal osteopenia with thin cortical bone. Reports of consanguinity indicate autosomal recessive inheritance, yet more affected males than females suggest X-linked recessive inheritance. We investigated a nonconsanguineous girl with DSS. Osteosclerosis was discovered at age 7 months. Our studies, spanning ages 11 to 44 months, showed weight at approximately 50th percentile, and length diminishing from approximately 30th percentile to –2.3 SD. Head circumference was +4 SD. The patient had frontal bossing, blue sclera, normal teeth, genu valgum, and unremarkable joints. Radiographs showed orbital and facial sclerosis, basilar thickening, bone-in-bone appearance of the pelvis, sclerotic long bone ends, and fractures of ribs and extremities. Progressive metaphyseal widening occurred as vertebrae changed from ovoid to flattened and became beaked anteriorly. A hemogram was normal. Consistent with OPT, serum parathyroid hormone (PTH) concentrations reflected dietary calcium levels. Serum bone alkaline phosphatase, osteocalcin, and TRACP-5b were subnormal. The iliac crest contained excessive primary spongiosa and no osteoclasts. No mutations were identified in the splice sites or exons for the genes encoding chloride channel 7, T-cell immune regulator 1, OPT-associated transmembrane protein 1, and monocyte colony-stimulating factor (M-CSF) and its receptor C-FMS, ANKH, OPG, RANK, and RANKL. Genomic copy-number microarray was unrevealing. Hence, DSS is a distinctive OPT of unknown etiology featuring osteoclast deficiency during early childhood. How osteopenia follows is an enigma of human skeletal pathobiology. © 2010 American Society for Bone and Mineral Research.
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DOI：
10.1002/ajmg.1320430304
发表时间：
1992-06-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
CHITAYAT, D;SILVER, K;AZOUZ, EM
通讯作者：
AZOUZ, EM
影响因子：
2
作者：
Lemire, Edmond G.;Wiebe, Sheldon
通讯作者：
Wiebe, Sheldon
DOI：
10.1016/0030-4220(91)90455-l
发表时间：
1991-02-01
影响因子：
--
作者：
PACKOTA, GV;SHIFFMAN, J;HALL, JM
通讯作者：
HALL, JM
DOI：
10.2106/00004623-199711000-00010
发表时间：
1997-11-01
影响因子：
5.3
作者：
Martin, RP;Deane, RH;Collett, V
通讯作者：
Collett, V
影响因子：
4.1
作者：
Boskey, AL;Gadaleta, S;Karsenty, G
通讯作者：
Karsenty, G