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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

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Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association

Charalampos Karadimas¹, Dimitrios Trouvas, George Haritatos

¹Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece.

Prenatal Diagnosis

|February 14, 2006

Abstract

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.

Conclusion:

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.

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