1 |
Duker AL, Eldridge G, Braverman NE, et al. Congenital heart defects common in rhizomelic chondrodysplasia punctata [J]. Am J Med Genet A, 2016, 170A(1): 270-272.
|
2 |
Irving MD, Chitty LS, Mansour S, et al. Chondrodysplasia punctata: a clinical diagnostic and radiological review [J]. Clin Dysmorphol, 2008, 17(4): 229-241.
|
3 |
刘妍, 吴青青, 王莉, 等. 表型严重的X-连锁显性点状软骨发育不良2型女性胎儿一例 [J]. 中华围产医学杂志, 2019, 22(8): 610-613.
|
4 |
刘嵩, 孔俊沣. 新生儿点状骨骺发育不良1例 [J]. 中国医学影像学杂志, 2019, 27(3): 215.
|
5 |
段佳佳, 王举, 李书津, 等. 新生儿点状软骨发育不良1例并文献复习 [J]. 河南医学研究, 2020, 29(30): 5758-5760.
|
6 |
Blask AR, Rubio EI, Chapman KA, et al. Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata [J]. Pediatr Radiol, 2018, 48(7): 979-991.
|
7 |
Ko HS, Lee UY, Choi SK, et al. Nasolabial dimensions of the facial profile at 20 to 37 weeks' gestation on 2- and 3-dimensional sonography in normal Korean fetuses [J]. J Ultrasound Med, 2013, 32(4): 617-624.
|
8 |
Boulet S, Dieterich K, Althuser M, et al. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome [J]. Fetal Diagn Ther, 2010, 28(3): 186-190。
|
9 |
Hertzberg BS, Kliewer MA, Decker M, et al. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata [J]. J Ultrasound Med, 1999, 18(10): 715-718。
|
10 |
Matos-Miranda C, Nimmo G, WiIliams B, et al. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies [J]. Genet Med, 2013, 15(8): 650-657.
|
11 |
Jurkiewicz E, Marcinska B, Bothur-Nowacka J, et al. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature [J]. Pol J Radiol, 2013, 78(2): 57-64.
|
12 |
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.
|
13 |
He GN, Yin Y, Zhao J, et al. Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation [J]. BMC Pediatr, 2019, 19(1): 250.
|
14 |
Donne HD, Faúndes A, Tristão EG, et al. Sonographic identification and measurement of the epiphyseal ossification centers as markers of fetal gestational age [J]. J Clin Ultrasound, 2005, 33(8): 394-400.
|