山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (11): 121-124.doi: 10.6040/j.issn.1671-7554.0.2022.1252
• • 上一篇
盛璇1,刘纪锋2,张歌1,尹虹1,宋琳琳1,王雯1
中图分类号:
| [1] Braverman NE, Steinberg SJ, Fallatah W, et al. Rhizomelic chondrodysplasia punctata type 1[M]. Seattle: University of Washington, 2001. [2] Zwijnenburg PJ, Deurloo KL, Waterham HR, et al. Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings[J]. Prenat Diagn, 2010, 30(2): 162-164. [3] 席磊,章振林.肢根型点状软骨发育不良一例[J]. 中华骨质疏松和骨矿盐疾病杂志, 2020, 13(1): 55-60. XI Lei, ZHANG Zhenlin. Rhizomelic chondrodysplasia punctata: a case report[J]. Chinese Journal of Osteoporosis and Bone Mineral Research, 2020, 13(1): 55-60. [4] Landino J, Jnah AJ, Newberry DM, et al. Neonatal rhizomelic chondrodysplasia punctata type 1: weaving evidence into clinical practice[J]. J Perinat Neonatal Nurs, 2017, 31(4): 350-357. [5] Irving MD, Chitty LS, Mansour S, et al. Chondrodysplasia punctata: a clinical diagnostic and radiological review[J]. Clin Dysmorphol, 2008, 17(4): 229-241. [6] Braverman N, Steel G, Obie C, et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata[J]. Nat Genet, 1997, 15(4): 369-376. [7] Itzkovitz B, Jiralerspong S, Nimmo G, et al. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata(RCDP)types 2 and 3[J]. Hum Mutat, 2012, 33(1): 189-197. [8] de Vet EC, Ijlst L, Oostheim W, et al. Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency[J]. J Biol Chem, 1998, 273(17): 10296-10301. [9] Wanders RJA, Poll-The BT. "Role of peroxisomes in human lipid metabolism and its importance for neurological development"[J]. Neurosci Lett, 2017, 637: 11-17. doi: 10.1016/j.neulet.2015.06.018. [10] Barøy T, Koster J, Strømme P, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform[J]. Hum Mol Genet, 2015, 24(20): 5845-5854. [11] Braverman NE, Moser AB, Steinberg SJ, et al. Rhizomelic chondrodysplasia punctata type 1[M]. Seattle: University of Washington, 2020: 1270-1294. [12] Wanders RJ. Metabolic and molecular basis of peroxisomal disorders: a review[J]. Am J Med Genet A, 2004, 126A(4): 355-375. [13] Duker AL, Niiler T, Eldridge G, et al. Growth charts for individuals with rhizomelic chondrodysplasia punctata[J]. Am J Med Genet A, 2017, 173(1): 108-113. [14] 徐蓓, 许雪青, 邵抗, 等. PEX7基因致病性新突变致肢根型点状软骨发育不良Ⅰ型胎儿一例[J]. 中华围产医学杂志, 2020, 23(6): 427-430. XU Bei, XU Xueqing, SHAO Kang, et al. Rhizomelic chondrodysplasia punctata type I in a fetus due to novel pathogenic mutation in PEX7 gene[J]. Chinese Journal of Perinatal Medicine, 2020, 23(6): 427-430. [15] Gendall PW, Baird CE, Becroft DM. Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography[J]. J Clin Ultrasound, 1994, 22(4): 271-274. [16] Sastrowijoto SH, Vandenberghe K, Moerman P, et al. Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida[J]. Prenat Diagn, 1994, 14(8): 770-776. [17] Ba?瘙塂bu g M, Serin IS, Ozçelik B, et al. Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts[J]. Fetal Diagn Ther, 2005, 20(3): 171-174. [18] Nayak SS, Adiga PK, Rai L, et al. Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder[J]. Genet Couns, 2012, 23(4): 487-491. [19] Hertzberg BS, Kliewer MA, Decker M, et al. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata[J]. J Ultrasound Med, 1999, 18(10): 715-718. [20] Duff P, Harlass FE, Milligan DA. Prenatal diagnosis of chondrodysplasia punctata by sonography[J]. Obstet Gynecol, 1990, 76(3 Pt 2): 497-500. [21] Gerami R, Barkhordari S. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata[J]. J Ultrasound, 2023, 26(2): 539-542. |
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