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Year Number of Results
1971 1
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1974 1
1977 1
1978 1
1979 1
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1983 1
1985 1
1986 2
1987 2
1988 2
1989 3
1991 2
1992 2
1995 1
1996 2
1997 1
1998 1
1999 2
2001 2
2002 2
2003 2
2005 2
2006 3
2007 3
2008 3
2009 3
2010 5
2011 6
2012 2
2013 1
2014 3
2015 3
2016 2
2017 3
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2019 1
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2023 1
2024 0

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78 results

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Page 1
Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study.
Pakkasjärvi N, Syvänen J, Wiro M, Koskimies-Virta E. Pakkasjärvi N, et al. Birth Defects Res. 2022 Dec 1;114(20):1427-1433. doi: 10.1002/bdr2.2123. Epub 2022 Nov 9. Birth Defects Res. 2022. PMID: 36353751 Free PMC article.
BACKGROUND: Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. ...Infant mortality in amelia and phocomelia was 67% and 60%, respectively. CONCLUSIONS: Infant mortality is high among amelia and …
BACKGROUND: Amelia and phocomelia represent severe limb reduction defects. Specific epidemiologic data on these defects are scarce. . …
Congenital limb deficiency disorders.
Wilcox WR, Coulter CP, Schmitz ML. Wilcox WR, et al. Clin Perinatol. 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004. Clin Perinatol. 2015. PMID: 26042905 Review.
Roberts-SC phocomelia syndrome.
Maheshwari A, Kumar P, Dutta S, Narang A. Maheshwari A, et al. Indian J Pediatr. 2001 Jun;68(6):557-9. doi: 10.1007/BF02723253. Indian J Pediatr. 2001. PMID: 11450388 Review.
He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. ...The phenotypic features match those described in the Roberts-SC phocomelia syndrome. A literature review revealed that 50% of these pa …
He had multiple craniofacial anomalies, microbrachycephaly, phocomelia in the upper limbs and renal cysts visible on ultrasound. ...T …
A review of supernumerary and absent limbs and digits of the upper limb.
Klaassen Z, Choi M, Musselman R, Eapen D, Tubbs RS, Loukas M. Klaassen Z, et al. Surg Radiol Anat. 2012 Mar;34(2):101-6. doi: 10.1007/s00276-011-0871-1. Epub 2011 Nov 9. Surg Radiol Anat. 2012. PMID: 22068244 Review.
Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionally, a number of clinical reports have illustrated different limb anomaly cases, with each situation unique in phenotype and developmental abn …
Maternal thalidomide intake during limb development is known to cause limb reduction and subsequent amelia or phocomelia. Additionall …
Acrofacial dysostoses.
Le Merrer M, Cikuli M, Ribier J, Briard ML. Le Merrer M, et al. Am J Med Genet. 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. Am J Med Genet. 1989. PMID: 2801764
A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. ...
A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyeli …
Pseudo-Roberts Syndrome: An Entity or Not?
Salari B, Dehner LP. Salari B, et al. Fetal Pediatr Pathol. 2022 Jun;41(3):396-402. doi: 10.1080/15513815.2020.1827320. Epub 2020 Oct 7. Fetal Pediatr Pathol. 2022. PMID: 33026893
Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Case report: Pre- and post-natal imaging and autopsy findings included schizence …
Background: Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male st …
Preimplantation genetic diagnosis for hereditary endocrine disease.
Lietman SA. Lietman SA. Endocr Pract. 2011 Jul-Aug;17 Suppl 3:28-32. doi: 10.4158/EP11056.RA. Endocr Pract. 2011. PMID: 21550946 Review.
METHODS: We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism type 1a with phocomelia and performed PGD on embryos derived by in vitro fertilization in order to deliver an unaffected infant. ...
METHODS: We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism ty …
The Molecular Mechanisms of Thalidomide Teratogenicity and Implications for Modern Medicine.
Knobloch J, Jungck D, Koch A. Knobloch J, et al. Curr Mol Med. 2017;17(2):108-117. doi: 10.2174/1566524017666170331162315. Curr Mol Med. 2017. PMID: 28429672 Review.
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide resistant. In the 1950s, this has led to misinterpretations of animal tests and to the fatal assumption that the drug was safe for pregnant w …
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide r …
The Roberts' syndrome.
Waldenmaier C, Aldenhoff P, Klemm T. Waldenmaier C, et al. Hum Genet. 1978 Feb 16;40(3):345-9. doi: 10.1007/BF00272196. Hum Genet. 1978. PMID: 631853
Our results were compared with the relevant literature and some particularities were emphasized. The question was discussed as to whether the SC-phocomelia (pseudothalidomid syndrome), the TAR syndrome, and reported single cases might be an identical syndrome....
Our results were compared with the relevant literature and some particularities were emphasized. The question was discussed as to whether th …
Obstetric US: watch the fetal hands.
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Rypens F, et al. Radiographics. 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. Radiographics. 2006. PMID: 16702456 Review.
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities (clenched hand, camptodactyly, clinodactyly, hypokinesia, clubhand, phocomelia), thumb anomalies, abnormal size (macrodactyly, trident …
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities ( …
78 results