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Items: 1 to 20 of 56

1.
Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
Meiying Cai, Yanting Que, Meihuan Chen, Min Zhang, Hailong Huang, Liangpu Xu, Na Lin
J Cell Mol Med. 2023 Aug; 27(16): 2354–2361. Published online 2023 Jul 3. doi: 10.1111/jcmm.17821
PMCID:
PMC10424293
AbstractArticlePDF–314K
2.
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism—a case report and literature review of the partial 16p13.3 trisomy syndrome
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
J Appl Genet. 2023; 64(1): 125–134. Published online 2022 Dec 31. doi: 10.1007/s13353-022-00743-7
PMCID:
PMC9837002
AbstractArticlePDF–2.2M
3.
The femur too short? 1373 fetuses with short femur during second-trimester screening
Ulrike Friebe-Hoffmann, Larissa Dobravsky, Thomas W. P. Friedl, Wolfgang Janni, Alexander J. Knippel, Hans J. Siegmann, Peter Kozlowski
Arch Gynecol Obstet. 2022; 306(4): 1037–1044. Published online 2022 Jan 11. doi: 10.1007/s00404-021-06394-z
PMCID:
PMC9470684
AbstractArticlePDF–846K
4.
Position effects at the FGF8 locus are associated with femoral hypoplasia
Magdalena Socha, Anna Sowińska-Seidler, Uirá Souto Melo, Bjørt K. Kragesteen, Martin Franke, Verena Heinrich, Robert Schöpflin, Inga Nagel, Nicolas Gruchy, Stefan Mundlos, Varun K.A. Sreenivasan, Cristina López, Martin Vingron, Ewelina Bukowska-Olech, Malte Spielmann, Aleksander Jamsheer
Am J Hum Genet. 2021 Sep 2; 108(9): 1725–1734. Published online 2021 Aug 24. doi: 10.1016/j.ajhg.2021.08.001
PMCID:
PMC8456176
AbstractArticlePDF–1.4M
5.
Clinical value of genetic analysis in prenatal diagnosis of short femur
Jialiu Liu, Linhuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Yanmin Luo
Mol Genet Genomic Med. 2019 Nov; 7(11): e978. Published online 2019 Sep 30. doi: 10.1002/mgg3.978
PMCID:
PMC6825856
AbstractArticlePDF–707K
6.
One-stage Surgical Treatment of Simultaneous Osteotomy and Asymmetric Lengthening on Short Femur with Severe Deformity of Genu Valgus
Hui-Fa Xu, Chao Xu, Jia Sha, Ya-Bo Yan, Chao Li, Zhi-Chen Liu, Lu-Yu Huang, Wei Lei
Sci Rep. 2019; 9: 8602. Published online 2019 Jun 13. doi: 10.1038/s41598-019-45157-4
PMCID:
PMC6565623
AbstractArticlePDF–1.1M
7.
A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking
Thomas Capobres, Gauravi Sabharwal, Brent Griffith
BJR Case Rep. 2016; 2(3): 20150420. Published online 2016 Jul 28. doi: 10.1259/bjrcr.20150420
PMCID:
PMC6243348
AbstractArticlePDF–539K
8.
Femoral Hypoplasia with Unusual Facies Syndrome
Sreekanth R Shenoy, Dipankar Mondal, Manas Ranjan Upadhyay, Bhupendra Kumar Gupta, Jatadhari Mahar
J Clin Diagn Res. 2017 Aug; 11(8): SD03–SD04. Published online 2017 Aug 1. doi: 10.7860/JCDR/2017/27632.10481
PMCID:
PMC5620872
AbstractArticlePDF–229K
9.
Simultaneous femoral and tibial lengthening in combined congenital complete fibular hemimelia and congenital short femur using Ilizarov ring external fixator
Sherif N.G. Bishay
J Orthop. 2014 Dec; 11(4): 183–187. Published online 2014 Jul 18. doi: 10.1016/j.jor.2014.06.004
PMCID:
PMC4281606
AbstractArticlePDF–1000K
10.
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III
Antonella Vimercati, Mariantonietta Panzarino, Ilaria Totaro, Annarosa Chincoli, Luigi Selvaggi
J Prenat Med. 2013 Jan-Mar; 7(1): 5–8.
PMCID:
PMC3671815
AbstractArticlePDF–241K
11.
Isolated Short Femur Length on Mid-Trimester Ultrasound: A Marker for Fetal Growth Restriction and Other Adverse Perinatal Outcomes
Katherine R. GOETZINGER, Alison G. CAHILL, George A. MACONES, Anthony O. ODIBO
J Ultrasound Med. Author manuscript; available in PMC 2013 Dec 1.
Published in final edited form as: J Ultrasound Med. 2012 Dec; 31(12): 1935–1941. doi: 10.7863/jum.2012.31.12.1935
PMCID:
PMC3592208
AbstractArticlePDF–53K
12.
Outcome of Fetuses with Diagnosis of Isolated Short Femur in the Second Half of Pregnancy
José Morales-Roselló, Núria Peralta LLorens
ISRN Obstet Gynecol. 2012; 2012: 268218. Published online 2012 Apr 17. doi: 10.5402/2012/268218
PMCID:
PMC3345228
AbstractArticlePDF–593K
13.
Femoral hypoplasia-unusual facies syndrome with bifid hallux, absent tibia, and macrophallus: a report of a Bedouin baby.
M A Sabry, D Obenbergerova, R Al-Sawan, Q A Saleh, S Farah, S A Al-Awadi, T I Farag
J Med Genet. 1996 Feb; 33(2): 165–167. doi: 10.1136/jmg.33.2.165
PMCID:
PMC1051846
SummaryPage BrowsePDF–717K
14.
Monozygotic twins concordant for congenital short femur.
J M Connor, P S Rae, R A Connor
J Med Genet. 1986 Aug; 23(4): 363–364. doi: 10.1136/jmg.23.4.363
PMCID:
PMC1049707
SummaryPage BrowsePDF–501K
15.
The femoral hypoplasia-unusual facies syndrome.
J Burn, R M Winter, M Baraitser, C M Hall, J Fixsen
J Med Genet. 1984 Oct; 21(5): 331–340. doi: 10.1136/jmg.21.5.331
PMCID:
PMC1049313
SummaryPage BrowsePDF–2.3M
16.
SOFT syndrome with Kohlschutter–Tonz syndrome
SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar
J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22
PMCID:
PMC10947733
AbstractArticle
17.
Uniparental disomy and prenatal phenotype: Two case reports and review
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
Medicine (Baltimore) 2017 Nov; 96(45): e8474. Published online 2017 Nov 10. doi: 10.1097/MD.0000000000008474
PMCID:
PMC5690727
AbstractArticlePDF–1.1M
18.
Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
Mol Med Rep. 2017 Jul; 16(1): 201–207. Published online 2017 May 10. doi: 10.3892/mmr.2017.6569
PMCID:
PMC5482112
AbstractArticlePDF–1.6M
19.
Femoral–facial syndrome in an infant of a diabetic mother
Saleem Ahmed, Saad Abdullah Alsaedi, Heidi Al-Wassia, Jumana Yousef Al-Aama
BMJ Case Rep. 2015; 2015: bcr2014208857. Published online 2015 Jul 6. doi: 10.1136/bcr-2014-208857
PMCID:
PMC4493187
AbstractArticlePDF–496K
20.
Fibular dimelia and mirror polydactyly of the foot in a girl presenting additional features of the VACTERL association
Pricila Bernardi, Carla Graziadio, Rafael Fabiano Machado Rosa, Juliana Nunes Pfeil, Paulo Ricardo Gazzola Zen, Giorgio Adriano Paskulin
Sao Paulo Med J. 2010; 128(2): 99–101. Published online 2010 Mar 4. doi: 10.1590/S1516-31802010000200011
PMCID:
PMC10938978
AbstractArticlePDF–395K

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