Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1985 1
1987 1
1990 1
1993 4
1995 2
1996 1
1997 1
2000 1
2004 1
2007 1
2011 2
2012 2
2013 1
2014 1
2016 3
2017 1
2019 1
2020 1
2021 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

26 results

Results by year

Filters applied: . Clear all
Page 1
Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.
dos Santos AN, da Costa CS, de Campos AC, Rocha NA. dos Santos AN, et al. Dev Neurorehabil. 2014 Aug;17(4):278-83. doi: 10.3109/17518423.2013.878406. Epub 2014 Mar 20. Dev Neurorehabil. 2014. PMID: 24649842 Review.
OBJECTIVE: To review literature concerning Marden-Walker syndrome (MWS) and describe physical-functional characteristics of a child with a suspected diagnosis of MWS. ...
OBJECTIVE: To review literature concerning Marden-Walker syndrome (MWS) and describe physical-functional characteristic …
Marden-Walker syndrome: case report, literature review and nosologic discussion.
Schrander-Stumpel C, de Die-Smulders C, de Krom M, Schyns-Fleuran S, Hamel B, Jaeken D, Fryns JP. Schrander-Stumpel C, et al. Clin Genet. 1993 Jun;43(6):303-8. doi: 10.1111/j.1399-0004.1993.tb03823.x. Clin Genet. 1993. PMID: 8370150 Review.
The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. ...During pregnancy, there were feeble fetal m …
The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, microgn …
Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.
Seidahmed MZ, Maddirevula S, Miqdad AM, Al Faifi A, Al Samadi A, Alkuraya FS. Seidahmed MZ, et al. Am J Med Genet A. 2021 Mar;185(3):945-948. doi: 10.1002/ajmg.a.62052. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369052 Review.
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic featur …
Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). …
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders.
Niederhoffer KY, Fahiminiya S, Eydoux P, Mawson J, Nishimura G, Jerome-Majewska LA, Patel MS. Niederhoffer KY, et al. Am J Med Genet A. 2016 Sep;170(9):2310-21. doi: 10.1002/ajmg.a.37831. Epub 2016 Jul 4. Am J Med Genet A. 2016. PMID: 27375131
Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital contracture syndromes including Beals congenital contractural arachnodactyly, D4ST1-Deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot …
Marden-Walker syndrome is challenging to diagnose, as there is significant overlap with other multi-system congenital c …
Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.
Garavelli L, Donadio A, Banchini G, Magnani C, Magnani C, Calzolari E, Fryns JP. Garavelli L, et al. Genet Couns. 2000;11(2):111-8. Genet Couns. 2000. PMID: 10893662
The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a …
The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arch …
Novel findings in the Marden-Walker syndrome.
Theys T, Van Geet C, Didgar M. Theys T, et al. J Pediatr Surg. 2011 Apr;46(4):e35-e37. doi: 10.1016/j.jpedsurg.2011.01.006. J Pediatr Surg. 2011. PMID: 21496524
Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a 14-year-old girl with the Marden-Walker syndrome who presented with a huge scalp hematoma. ...
Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a 14-year-old girl with the M …
Renal anomalies in Marden-Walker syndrome: a clue for prenatal diagnosis.
Ben-Neriah Z, Yagel S, Ariel I. Ben-Neriah Z, et al. Am J Med Genet. 1995 Jul 3;57(3):417-9. doi: 10.1002/ajmg.1320570310. Am J Med Genet. 1995. PMID: 7677143
Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies. We report on the prenatal diagnosis of Marden …
Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, j …
Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ. Winters KA, et al. Am J Med Genet A. 2012 Nov;158A(11):2935-40. doi: 10.1002/ajmg.a.35613. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987394
We report on a 16-year-old female originally diagnosed with Marden-Walker syndrome due to features such as facial dysmorphism, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal-sized cereb …
We report on a 16-year-old female originally diagnosed with Marden-Walker syndrome due to features such as facial dysmo …
Expanded spectrum of findings in Marden-Walker syndrome.
Giacoia GP, Pineda R. Giacoia GP, et al. Am J Med Genet. 1990 Aug;36(4):495-9. doi: 10.1002/ajmg.1320360425. Am J Med Genet. 1990. PMID: 2202217 Review.
These congenital anomalies are consistent with a diagnosis of the Marden-Walker syndrome. The infant also had an omphalomesenteric duct, left hypoplastic kidney, hypoplastic right lower lobe of the lung, and displacement of the larynx to the right; these anom …
These congenital anomalies are consistent with a diagnosis of the Marden-Walker syndrome. The infant also had an omphal …
Familial Gordon syndrome associated with a PIEZO2 mutation.
Alisch F, Weichert A, Kalache K, Paradiso V, Longardt AC, Dame C, Hoffmann K, Horn D. Alisch F, et al. Am J Med Genet A. 2017 Jan;173(1):254-259. doi: 10.1002/ajmg.a.37997. Epub 2016 Oct 7. Am J Med Genet A. 2017. PMID: 27714920 Review.
Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development. ...
Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of thi …
26 results