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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
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Aarskog syndrome: from prenatal features towards postnataldiagnosis

Authors: Ingrid Witters; Hilde Peeters; Christine Willekes; Audrey Coumans; Peter Sieprath; Derize Boshoff; Jean-Pierre Fryns;

Aarskog syndrome: from prenatal features towards postnataldiagnosis

Abstract

Aarskog syndrome (faciogenital dysplasia, facio-digito-genital syndrome, Aarskog–Scott syndrome, OMIM 305400) is a rare, clinically and genetically heterogeneous X-linked recessive condition characterized by facial dysmorphic features, short stature, brachydactyly and genital anomalies. The prenatal diagnosis of Aarskog syndrome has only been made in the third trimester in high-risk families. This case describes a pregnancy with facial dysmorphism from 12 weeks gestation and associated growth restriction from the second trimester, postnatally diagnosed as the Aarskog syndrome. It shows the value of three-dimensional ultrasound in the evaluation of facial dysmorphism.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average