| Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. | |
| | |
MedLine Citation:
|
PMID: 19940464 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and symmetric cutaneous and bony syndactyly of the limbs. The skull is usually hyperacrobrachycephalic, whereas frank cloverleafing, as a clinically obvious trilobed skull deformity, is rarely seen in these patients. We report a rare case of Apert syndrome with cloverleaf skull deformity, prenatally diagnosed at 26weeks' gestation in which the sonographic features of a characteristic trilobed skull, abnormal biparietal diameter and head circumference, as well as malformations of the upper and lower extremities led to the diagnosis, confirmed by prenatal fibroblast growth factor receptor type 2 mutation analysis and fetal magnetic resonance imaging. The genetic evaluation revealed a p.P253R mutation in fibroblast growth factor receptor type 2 consisting in a transversion C>G at nucleotide 758. We discuss the relevant prenatal morphologic and genetic findings of this patient and review previously published cases. Our report demonstrates the feasibility of the prenatal diagnosis of Apert syndrome with cloverleaf skull using ultrasound, fetal magnetic resonance imaging and mutation analysis, and also highlights the importance of the biparietal diameter as an early predictor of growth restriction in severe craniosynostosis cases. |
| | |
Authors:
|
Benedikt Weber; Anton H Schwabegger; Julia Vodopiutz; Andreas R Janecke; Rosemarie Forstner; Horst Steiner |
Related Documents
:
|
11380424 - A novel mutation in the slc19a2 gene in a tunisian family with thiamine-responsive mega... 18304174 - Multiple giant pilomatricoma in familial sotos syndrome. 19907874 - Loeys-dietz syndrome: a marfan-like syndrome associated with aggressive vasculopathy. 20052364 - A novel dhcr7 mutation in a smith-lemli-opitz syndrome infant presenting with neonatal ... 1318714 - Chronic fatigue syndrome. a review from the general practice perspective. 8477614 - Sjögren-larsson syndrome: report of a case in india. |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2009-11-26 |
Journal Detail:
|
Title: Fetal diagnosis and therapy Volume: 27 ISSN: 1421-9964 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-01-29 Completed Date: 2010-06-30 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
|
Languages: eng Pagination: 51-6 Citation Subset: IM |
Copyright Information:
|
Copyright 2009 S. Karger AG, Basel. |
Affiliation:
|
Department of Obstetrics and Gynecology, Paracelsus Private Medical University, M?llner Hauptstrasse 48, AT-5020 Salzburg, Austria. h.steiner@salk.at |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acrocephalosyndactylia
/
diagnosis*,
genetics,
ultrasonography Adult Female Genetic Testing Humans Magnetic Resonance Imaging Mutation Pregnancy Prenatal Diagnosis* Receptor, Fibroblast Growth Factor, Type 2 / genetics Skull / abnormalities*, pathology, ultrasonography |
| Chemical | |
Reg. No./Substance:
|
EC 2.7.1.112/FGFR2 protein, human; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 2 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Role of the Perifornical Hypothalamic Monoamine Neurotransmitter Systems in Anorectic Effects of End...
Next Document: Evaluation of Biological Aging Process - A Population-Based Study of Healthy People in China.