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A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking

A 28-year-old G3 P1 SAB1 female with no prior health concerns was found to have a foetus with short femurs on prenatal ultrasound following an abnormal maternal serum screen result. Fluid obtained by amniocentesis revealed an elevated α-fetoprotein level with absence of an acetylcholinesterase band...

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Pubblicato in:BJR Case Rep
Autori principali: Capobres, Thomas, Sabharwal, Gauravi, Griffith, Brent
Natura: Artigo
Lingua:Inglês
Pubblicazione: The British Institute of Radiology 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6243348/
https://ncbi.nlm.nih.gov/pubmed/30459979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1259/bjrcr.20150420
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