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.
Related Organizations
- Université Catholique de Louvain Belgium
- KU Leuven Belgium
- Maastricht University Medical Centre Netherlands
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citations
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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).
popularity
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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