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Atypical presentation of a newborn with Apert syndrome.
Childs Nerv Syst. 2015 Mar; 31(3):481-6.CN

Abstract

INTRODUCTION

Apert syndrome is a rare syndrome characterized by a consistent phenotype including bilateral coronal suture synostosis with an enlarged anterior fontanel, midface hypoplasia, and complex symmetric syndactyly of hands and feet.

CASE REPORT

We present a boy with Apert syndrome caused by the pathogenic c.755C > G p.Ser252Trp mutation in the FGFR2 gene with atypical characteristics, including premature fusion of the metopic suture with a small anterior fontanel, hypotelorism, and a massive posterior fontanel. Directly after birth, he showed papilledema, epilepsy, and central apneas.

CONCLUSION

We present a newborn with Apert syndrome with atypical craniofacial presentation.

Authors+Show Affiliations

Dutch Craniofacial Center, Sophia Children's Hospital-Erasmus University Medical Center, Wytemaweg 80, Room SK-1202, PO Box 2060, 3015 CN, Rotterdam, The Netherlands, b.spruijt@erasmusmc.nl.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25433548

Citation

Spruijt, B, et al. "Atypical Presentation of a Newborn With Apert Syndrome." Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery, vol. 31, no. 3, 2015, pp. 481-6.
Spruijt B, Rijken BF, Joosten KF, et al. Atypical presentation of a newborn with Apert syndrome. Childs Nerv Syst. 2015;31(3):481-6.
Spruijt, B., Rijken, B. F., Joosten, K. F., Bredero-Boelhouwer, H. H., Pullens, B., Lequin, M. H., Wolvius, E. B., van Veelen-Vincent, M. L., & Mathijssen, I. M. (2015). Atypical presentation of a newborn with Apert syndrome. Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery, 31(3), 481-6. https://doi.org/10.1007/s00381-014-2601-6
Spruijt B, et al. Atypical Presentation of a Newborn With Apert Syndrome. Childs Nerv Syst. 2015;31(3):481-6. PubMed PMID: 25433548.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Atypical presentation of a newborn with Apert syndrome. AU - Spruijt,B, AU - Rijken,B F M, AU - Joosten,K F M, AU - Bredero-Boelhouwer,H H, AU - Pullens,B, AU - Lequin,M H, AU - Wolvius,E B, AU - van Veelen-Vincent,M L C, AU - Mathijssen,I M J, Y1 - 2014/11/30/ PY - 2014/11/12/received PY - 2014/11/24/accepted PY - 2014/12/1/entrez PY - 2014/12/1/pubmed PY - 2015/10/27/medline SP - 481 EP - 6 JF - Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery JO - Childs Nerv Syst VL - 31 IS - 3 N2 - INTRODUCTION: Apert syndrome is a rare syndrome characterized by a consistent phenotype including bilateral coronal suture synostosis with an enlarged anterior fontanel, midface hypoplasia, and complex symmetric syndactyly of hands and feet. CASE REPORT: We present a boy with Apert syndrome caused by the pathogenic c.755C > G p.Ser252Trp mutation in the FGFR2 gene with atypical characteristics, including premature fusion of the metopic suture with a small anterior fontanel, hypotelorism, and a massive posterior fontanel. Directly after birth, he showed papilledema, epilepsy, and central apneas. CONCLUSION: We present a newborn with Apert syndrome with atypical craniofacial presentation. SN - 1433-0350 UR - https://www.unboundmedicine.com/medline/citation/25433548/Atypical_presentation_of_a_newborn_with_Apert_syndrome_ L2 - https://doi.org/10.1007/s00381-014-2601-6 DB - PRIME DP - Unbound Medicine ER -