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Quoted phrase not found in phrase index: "Van Maldergem syndrome 1"
Page 1
Middle ear abnormalities in Van Maldergem syndrome.
Am J Med Genet A. 2017 Jan;173(1):239-244. doi: 10.1002/ajmg.a.37990. Epub 2016 Oct 14.
Am J Med Genet A. 2017.
PMID: 27739185
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. ...
Van Maldergem syndrome (VMS) is a very rare syndrome that was first described in 1992. ...
A further patient with van Maldergem syndrome.
Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.
Neuhann TM, et al.
Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13.
Eur J Med Genet. 2012.
PMID: 22469822
We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. His parents are first cousins. At the age of 4 years the boy presented with severe developmental delay, talipes equinovarus, finger camptod …
We report on a male patient with the proposed diagnosis of the rare but very distinct entity of van Maldergem syndrome. …
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Cutis marmorata telangiectatica congenita: a literature review.
Bui TNPT, Corap A, Bygum A.
Bui TNPT, et al.
Orphanet J Rare Dis. 2019 Dec 4;14(1):283. doi: 10.1186/s13023-019-1229-8.
Orphanet J Rare Dis. 2019.
PMID: 31801575
Free PMC article.
Review.
Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium "absence of venectasia" was not m …
Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmenta …
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