Format

Send to

Choose Destination
See comment in PubMed Commons below
Childs Nerv Syst. 2004 May;20(5):297-301. Epub 2004 Feb 10.

Muenke syndrome.

Author information

1
Section of Pediatric Neurosurgery, Institute of Neurosurgery, Catholic University Medical School, Largo A. Gemelli 8, 00168 Rome, Italy. giosaba@inwind.it

Abstract

BACKGROUND:

Muenke syndrome is a genetically determined craniosynostosis that involves one or both coronal sutures. In some patients it is associated with skeletal abnormalities such as thimble-like middle phalanges, coned epiphysis, and/or neurological impairment, namely sensorineural hearing loss or mental retardation. In spite of a variable phenotype, Muenke syndrome has been related to a unique mutation on the FGFR3 gene, Pro 250 to Arg, which is characteristic of this disease. Because of the incomplete penetrance of this anomaly, the suspicion of Muenke syndrome must be raised in any child with uni- or bilateral coronal craniosynostosis, and the genetic analysis propounded even in the absence of extracranial features.

ILLUSTRATIVE CASES:

We report the cases of two sisters who presented with Muenke syndrome and whose affected mother did not have any form of craniosynostosis.

PMID:
14963686
DOI:
10.1007/s00381-003-0906-y
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Springer
    Loading ...
    Support Center