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Page 1
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2012 Mar;51(1):12-7. doi: 10.1016/j.tjog.2012.01.004. Taiwan J Obstet Gynecol. 2012. PMID: 22482962 Free article. Review.
Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple …
Fetal akinesia deformation sequence may phenotypically overlap with the lethal type of multiple pterygium syndrome. Thi …
The lethal multiple pterygium syndrome: a nosological approach.
de Die-Smulders CE, Schrander-Stumpel CT, Fryns JP. de Die-Smulders CE, et al. Genet Couns. 1990;1(1):13-23. Genet Couns. 1990. PMID: 2222917 Review.
The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hydrops and/or hygroma colli. ...
The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hy …
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Lawal TA, et al. Skelet Muscle. 2020 Nov 16;10(1):32. doi: 10.1186/s13395-020-00243-4. Skelet Muscle. 2020. PMID: 33190635 Free PMC article. Review.
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mi …
As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, letha …
[Multiple pterygium syndrome].
Kurosawa K. Kurosawa K. Nihon Rinsho. 2006 Sep 28;Suppl 3:433-5. Nihon Rinsho. 2006. PMID: 17022581 Review. Japanese. No abstract available.
Multiple pterygium syndrome. An overview.
Ramer JC, Ladda RL, Demuth WW. Ramer JC, et al. Am J Dis Child. 1988 Jul;142(7):794-8. doi: 10.1001/archpedi.1988.02150070108039. Am J Dis Child. 1988. PMID: 3289375 Review.
The longitudinal course of two sisters with multiple pterygium syndrome is reported. The findings in these siblings are compared with those of 27 children described in the medical literature. ...Recommendations are made for a multidisciplinary approach to ind …
The longitudinal course of two sisters with multiple pterygium syndrome is reported. The findings in these siblings are …
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. ...
Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS). Herein we present a long-term …
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.
Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Enns GM, et al. Am J Med Genet. 1998 Sep 23;79(3):215-25. Am J Med Genet. 1998. PMID: 9788565 Review.
The 4 of 16 (25%) without additional anomalies on prenatal sonography had multiple anomalies found neonatally, lethal multiple pterygium syndrome being diagnosed in one case. Prenatal chromosome analysis was performed in 7 of 16 patients, and all had p …
The 4 of 16 (25%) without additional anomalies on prenatal sonography had multiple anomalies found neonatally, lethal multiple …
Myopathies associated with β-tropomyosin mutations.
Tajsharghi H, Ohlsson M, Palm L, Oldfors A. Tajsharghi H, et al. Neuromuscul Disord. 2012 Nov;22(11):923-33. doi: 10.1016/j.nmd.2012.05.018. Epub 2012 Jun 29. Neuromuscul Disord. 2012. PMID: 22749895 Review.
Nonimmune hydrops fetalis associated with genetic abnormalities.
Jauniaux E, Van Maldergem L, De Munter C, Moscoso G, Gillerot Y. Jauniaux E, et al. Obstet Gynecol. 1990 Mar;75(3 Pt 2):568-72. Obstet Gynecol. 1990. PMID: 2406672 Review.
The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal dysplasia (4%), arthrogryposis multiplex syndromes (1.8%), multiple pterygium syndrome (1.5%), and lysosomal storage dis …
The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal d …
13 results