Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.
We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation.
Clinical Genetic Center, Department of Pediatrics, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
Beáta
B
Bessenyei
Andrea
A
Nagy
Erzsébet
E
Balogh
László
L
Novák
László
L
Bognár
Alida C
AC
Knegt
Eva
E
Oláh
D000130:Achondroplasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D002871:Chromosome Banding; D003398:Craniosynostoses / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D012886:Skull / Q000473:pathology
D051498:Receptor, Fibroblast Growth Factor, Type 3
achondroplasia; craniosynostosis; multiple-suture