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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.
This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders. ...Genetic analysis of mutations in the neu …
This article provides a comprehensive review of prenatal diagnosis and genetic analysis of fetal akinesia deformation
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G. Beecroft SJ, et al. J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29. J Med Genet. 2018. PMID: 29959180 Review.
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature.
Katzenstein M, Goodman RM. Katzenstein M, et al. J Craniofac Genet Dev Biol. 1988;8(2):111-26. J Craniofac Genet Dev Biol. 1988. PMID: 3053754 Review.
Infrequently, some of the affected children may reach the age of 1 year and beyond. When there is a history of another affected sib, the entity can be suspected prenatally. ...The possibility of a primary hereditary malformation affecting the motor neuron cells of the spin …
Infrequently, some of the affected children may reach the age of 1 year and beyond. When there is a history of another affected sib, …
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
Lefèvre CR, Collardeau-Frachon S, Streichenberger N, Berenguer-Martin S, Clémenson A, Massardier J, Prieur F, Laurichesse H, Laffargue F, Acquaviva-Bourdain C, Froissart R, Pettazzoni M. Lefèvre CR, et al. J Inherit Metab Dis. 2024 Mar;47(2):255-269. doi: 10.1002/jimd.12692. Epub 2023 Nov 27. J Inherit Metab Dis. 2024. PMID: 38012812 Review.
The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of structurally abnormal, amylopectin-like glycogen in affected tissues (liver, skeletal muscle, heart, nervous system, etc.). ...Here we describe cl …
The incidence is evaluated to 1:600 000 to 1:800 000 of live births. GBE deficiency leads to an excessive deposition of struct …
Early ultrasonographic changes in Fowler syndrome features and review of the literature.
Usta IM, AbuMusa AA, Khoury NG, Nassar AH. Usta IM, et al. Prenat Diagn. 2005 Nov;25(11):1019-23. doi: 10.1002/pd.1240. Prenat Diagn. 2005. PMID: 16231307 Review.
BACKGROUND: Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression …
BACKGROUND: Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of …
Restrictive dermopathy: a case report and a critical review of all hypotheses of its origin.
Nijsten TE, De Moor A, Colpaert CG, Robert K, Mahieu LM, Lambert J. Nijsten TE, et al. Pediatr Dermatol. 2002 Jan-Feb;19(1):67-72. doi: 10.1046/j.1525-1470.2002.00029.x. Pediatr Dermatol. 2002. PMID: 11860576 Review.
Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major clinical observation. This causes an intrauterine fetal akinesia deformation sequence (FADS) resulting in polyhyd …
Restrictive dermopathy (RD) is a rare, fatal, autosomal recessive genodermatosis in which tautness of a translucent thin skin is the major c …