Atypical presentation of a newborn with Apert syndrome.

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: B Spruijt, B F M Rijken, K F M Joosten, H H Bredero-Boelhouwer, B Pullens, M H Lequin, E B Wolvius, M L C van Veelen-Vincent, I M J Mathijssen
• Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (Childs Nerv Syst) Vol. 31 Issue 3 Pg. 481-6 (Mar 2015) ISSN: 1433-0350 [Electronic] Germany
• PMID: 25433548 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• FGFR2 protein, human
• Receptor, Fibroblast Growth Factor, Type 2

Topics

• Acrocephalosyndactylia (complications, genetics, surgery)
• Adult
• Endoscopy
• Female
• Follow-Up Studies
• Humans
• Infant, Newborn
• Intracranial Pressure
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Mutation (genetics)
• Receptor, Fibroblast Growth Factor, Type 2 (genetics)
• Respiration Disorders (etiology)