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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 1
1985 4
1986 1
1987 1
1988 2
1989 2
1990 1
1993 3
1994 3
1995 3
1996 1
1997 1
1998 3
1999 2
2000 2
2001 1
2002 4
2003 2
2005 1
2006 1
2007 3
2008 3
2009 4
2010 3
2011 8
2012 6
2013 2
2014 5
2015 6
2016 3
2017 4
2018 4
2019 4
2020 1
2021 2
2022 4
2023 4
2024 1

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96 results

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Page 1
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. ...
The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II …
Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis.
Mone F, Mellis R, Gabriel H, Baptiste C, Giordano J, Wapner R, Chitty LS. Mone F, et al. Am J Obstet Gynecol. 2023 Apr;228(4):409-417.e4. doi: 10.1016/j.ajog.2022.09.045. Epub 2022 Oct 7. Am J Obstet Gynecol. 2023. PMID: 36209938 Free article. Review.
Of the 37 short long bone cases with a diagnosis, 32 had a skeletal dysplasia, with thanatophoric dysplasia and osteogenesis imperfecta being the most common (both 21.6% [n=8/37]). ...
Of the 37 short long bone cases with a diagnosis, 32 had a skeletal dysplasia, with thanatophoric dysplasia and osteogenesis i …
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E, Azouz EM, Teebi AS, Glanc P, Chen MF. Lemyre E, et al. Can Assoc Radiol J. 1999 Jun;50(3):185-97. Can Assoc Radiol J. 1999. PMID: 10405653 Review.
The authors summarize the clinical, genetic and histopathologic features, as well as the complications, and radiological diagnosis of 3 related generalized short-limb skeletal dysplasias: achondroplasia, hypochondroplasia and thanatophoric dysplasia. In all of these …
The authors summarize the clinical, genetic and histopathologic features, as well as the complications, and radiological diagnosis of 3 rela …
National survey of prevalence and prognosis of thanatophoric dysplasia in Japan.
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S. Sawai H, et al. Pediatr Int. 2019 Aug;61(8):748-753. doi: 10.1111/ped.13927. Epub 2019 Aug 27. Pediatr Int. 2019. PMID: 31247124 Free PMC article.
BACKGROUND: Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68-8.3 per 100 000 births, but statistical data on the estimated number of TD patients across Japan are not available. ...To our knowledge, we have c …
BACKGROUND: Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68-8.3 pe …
Diagnosis of thanatophoric dysplasia using clinical exome screening.
Holub M, Sekowská M, Smetanová D, Koudová M, Sobolová K, Šinská A, Heřman H. Holub M, et al. Ceska Gynekol. 2023;88(5):376-379. doi: 10.48095/cccg2023376. Ceska Gynekol. 2023. PMID: 37932055 English.
Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. ...
Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the …
Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements.
Wang L, Takai Y, Baba K, Mikami Y, Saito M, Horiuchi I, Konno R, Takagi K, Seki H. Wang L, et al. Taiwan J Obstet Gynecol. 2017 Jun;56(3):374-378. doi: 10.1016/j.tjog.2017.04.021. Taiwan J Obstet Gynecol. 2017. PMID: 28600053 Free article. Review.
OBJECTIVE: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy. MATERIALS AND METHODS: Twenty-four reported cases of thanatophoric …
OBJECTIVE: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanat …
Temporal lobe dysplasia: a characteristic sonographic finding in thanatophoric dysplasia.
Wang DC, Shannon P, Toi A, Chitayat D, Mohan U, Barkova E, Keating S, Tomlinson G, Glanc P. Wang DC, et al. Ultrasound Obstet Gynecol. 2014 Nov;44(5):588-94. doi: 10.1002/uog.13337. Epub 2014 Oct 13. Ultrasound Obstet Gynecol. 2014. PMID: 24585534 Free article.
OBJECTIVE: To determine the incidence of temporal lobe dysplasia (TLD) detected on prenatal ultrasound in thanatophoric dysplasia (TD) over an 11-year period in a tertiary referral center. ...
OBJECTIVE: To determine the incidence of temporal lobe dysplasia (TLD) detected on prenatal ultrasound in thanatophoric dysplasia …
The genetic basis of the osteochondrodysplasias.
Baitner AC, Maurer SG, Gruen MB, Di Cesare PE. Baitner AC, et al. J Pediatr Orthop. 2000 Sep-Oct;20(5):594-605. doi: 10.1097/00004694-200009000-00010. J Pediatr Orthop. 2000. PMID: 11008738 Review.
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. Chitty LS, et al. Prenat Diagn. 2013 May;33(5):416-23. doi: 10.1002/pd.4066. Epub 2013 Feb 14. Prenat Diagn. 2013. PMID: 23408600 Free PMC article.
METHODS: Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic features and measurements determined. ...CONCLUSION: These data should improve the accuracy of the sonographic diagnosis of thanatophoric …
METHODS: Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonographic feature …
Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.
Tan AP, Priego G. Tan AP, et al. Childs Nerv Syst. 2019 Jun;35(6):1059-1061. doi: 10.1007/s00381-018-04035-6. Epub 2019 Jan 4. Childs Nerv Syst. 2019. PMID: 30610483
The objective of this article is to describe an unusual case of thanatophoric dysplasia (TD) with dysplastic tectal plate and resultant aqueductal stenosis diagnosed on fetal MRI. ...
The objective of this article is to describe an unusual case of thanatophoric dysplasia (TD) with dysplastic tectal plate and …
96 results