Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
OBJECTIVE
We report an atypical case of a fetus presenting with a combined achondroplasia and multiple craniosynostosis phenotype.


METHODS
Sonographic monitoring in conjunction with molecular genetic analysis was performed in a 32-gestational weeks fetus.


RESULTS
Sonographic findings were consistent with a diagnosis of achondroplasia associated with multiple-suture synostosis. The most common G380R FGFR3 achondroplasia mutation was detected.


CONCLUSIONS
The most common achondroplasia mutation should be considered for prenatal DNA testing in cases with ultrasound findings of achondroplasia and multiple-suture synostosis. This is crucial for the genetic counselling and perinatal management of the fetus.
Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece.
Charalampos
C
Karadimas
Dimitrios
D
Trouvas
George
G
Haritatos
Constantinos
C
Makatsoris
Evangelos
E
Dedoulis
Voula
V
Velissariou
Thalia
T
Antoniadi
Angeliki
A
Hatzaki
Michael B
MB
Petersen
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000235:genetics; D005091:Exons; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D016216:Ultrasonography, Prenatal
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3