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Aarskog syndrome: from prenatal features towards postnataldiagnosis
- Source :
- Ultrasound. 19:107-109
- Publication Year :
- 2011
- Publisher :
- SAGE Publications, 2011.
-
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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Pregnancy
Radiological and Ultrasound Technology
business.industry
Brachydactyly
Prenatal diagnosis
medicine.disease
Third trimester
Short stature
Facial dysmorphism
Dysplasia
Aarskog Syndrome
medicine
Radiology, Nuclear Medicine and imaging
medicine.symptom
business
Subjects
Details
- ISSN :
- 17431344 and 1742271X
- Volume :
- 19
- Database :
- OpenAIRE
- Journal :
- Ultrasound
- Accession number :
- edsair.doi...........6b2c046166e355dcf06e675260d93b23