Prenatal ultrasound and molecular diagnosis elucidate the prognosis of Pfeiffer $syndrome^{1)}$

Content Provider	Scilit
Author	Jelin, Angie C. Chang, Jin Feldstein, Vickie Rauen, Katherine A.
Copyright Year	2013
Abstract	Background: Pfeiffer syndrome (PS) is one of several related craniosynostosis and occurs in 1 out of every 100,000 births. The diagnosis has historically been based on the clinical neonatal findings of bilateral coronal craniosynostosis, midface hypoplasia, with broad thumbs and great toes. Case: A craniosynostosis suggestive of PS was identified on prenatal ultrasound at 34+3 weeks gestation by findings of polyhydramnios, a cloverleaf skull, ventriculomegaly, hypertelorism, marked orbital proptosis, short limbs, broad digits, and an abnormality of the spine. Prenatal molecular testing of the FGFR genes revealed an exon 10, p.Y340C mutation in the FGFR2 gene. Conclusion: PS can now be diagnosed prenatally. In our case, the specific mutation was associated with an especially severe phenotype. The ultrasonographic findings in conjunction with the molecular diagnosis allowed us to better inform the patient and medical staff about the diagnosis and prognosis.
Related Links	http://www.degruyter.com/downloadpdf/j/crpm.2013.2.issue-1-2/crpm-2012-0043/crpm-2012-0043.xml
Ending Page	55
Page Count	5
Starting Page	51
ISSN	21928932
e-ISSN	21928959
DOI	10.1515/crpm-2012-0043
Journal	Case Reports in Perinatal Medicine
Issue Number	1-2
Volume Number	2
Language	English
Publisher	Walter de Gruyter GmbH
Publisher Date	2013-02-27
Access Restriction	Open
Subject Keyword	Case Reports in Perinatal Medicine Pediatrics and Child Health Molecular Diagnosis Pfeiffer Syndrome Prenatal Ultrasound Journal: Case Reports in Perinatal Medicine, Vol- 2
Content Type	Text
Resource Type	Article