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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 …
Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.
Verhagen JM, Schrander-Stumpel CT, Krapels IP, de Die-Smulders CE, van Lint FH, Willekes C, Weber JW, Gavilanes AW, Macville MV, Stegmann AP, Engelen JJ, Bakker J, Vos YJ, Frints SG. Verhagen JM, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e542-7. doi: 10.1016/j.ejmg.2011.06.005. Epub 2011 Jul 30. Eur J Med Genet. 2011. PMID: 21839187
In the group of SH patients, 29% (14/48) had a known cause of hydrocephalus including chromosomal abnormalities, L1 syndrome, Marden-Walker syndrome, Walker-Warburg syndrome and hemifacial microsomia. ...
In the group of SH patients, 29% (14/48) had a known cause of hydrocephalus including chromosomal abnormalities, L1 syndrome, Marden- …
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Zapata-Aldana E, Al-Mobarak SB, Karp N, Campbell C. Zapata-Aldana E, et al. Am J Med Genet A. 2019 Jun;179(6):1034-1041. doi: 10.1002/ajmg.a.61143. Epub 2019 Apr 1. Am J Med Genet A. 2019. PMID: 30938034 Review.
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this report, we present a 3-generation family affected with DA5, who all carry a variant of unknown clinical significance c.8068A>C (p.Ser2690 …
Heterozygous mutations in PIEZO2 may lead to other phenotypes like Gordon Syndrome and Marden Walker syndrome. In this …
First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease.
Wörmann J, Lüker J, Plenge T, van den Bruck JH, Steven D, Sultan A. Wörmann J, et al. Herzschrittmacherther Elektrophysiol. 2020 Jun;31(2):235-237. doi: 10.1007/s00399-020-00685-9. Epub 2020 May 5. Herzschrittmacherther Elektrophysiol. 2020. PMID: 32372230 English.
A pediatric patient suffering from Marden-Walker syndrome, a rare genetic disease, was referred to the authors' hospital for syncope due to bradycardia. ...
A pediatric patient suffering from Marden-Walker syndrome, a rare genetic disease, was referred to the authors' hospita …
Marden-Walker phenotype: a diagnostic dilemma.
Soekarman D, Volcke P, Legius E, Holvoet M, Fryns JP. Soekarman D, et al. Genet Couns. 1996;7(1):31-9. Genet Couns. 1996. PMID: 8652086
Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of this condition are blepharophimosis, micrognatia, congenital joint contractures, mental retardation, growth retardation and decreased muscu …
Two cases are presented with a phenotype mostly resembling the condition named Marden-Walker syndrome. Main features of …
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Oliwa A, Hendson G, Longman C, Synnes A, Seath K, Barnicoat A, Hall JG, Patel MS. Oliwa A, et al. Am J Med Genet A. 2023 Feb;191(2):546-553. doi: 10.1002/ajmg.a.63019. Epub 2022 Nov 1. Am J Med Genet A. 2023. PMID: 36317804
Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the presence of cleft palate (DA3), ptosis and restriction …
Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly …
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.
Dentici ML, Mingarelli R, Dallapiccola B. Dentici ML, et al. Am J Med Genet A. 2011 Mar;155A(3):459-65. doi: 10.1002/ajmg.a.33642. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21567902
Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndromes, including Dubowitz syndrome, Marden-Walker syndrome, Ohdo/Ohdo-like syndromes, and the cholesterol storage disord …
Numerous metabolic/genetic investigations, including cholesterol precursors, dosage, and high-resolution array-CGH, were negative. BMR syndr …
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected.
Arahori H, Tamura A, Wasada K, Shimoya K, Wada K, Murata Y, Ozono K. Arahori H, et al. J Obstet Gynaecol Res. 2007 Jun;33(3):248-53. doi: 10.1111/j.1447-0756.2007.00519.x. J Obstet Gynaecol Res. 2007. PMID: 17578350
RESULTS: Final diagnoses included skeletal dysplasia (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnormality (three), pyruvate dehydrogenase complex deficiency (one), Marden-Walker syndrome (one), and suspected Freeman-Sh …
RESULTS: Final diagnoses included skeletal dysplasia (16), small-for-dates (SFD) infant without any abnormalities (seven), chromosomal abnor …