Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.
BACKGROUND
Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified.


METHODS
Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported. Molecular biology regarding identification of craniosynostosis type has been analyzed. A revision of the medical literature is also provided.


CONCLUSIONS
The premature closure of sagittal suture is characterized by a disproportionately large occipito-frontal and short biparietal diameter (scaphocephaly). The prenatal ultrasound diagnosis of craniosynostosis in utero may be difficult and be suspected when the cephalic index, the cranial shape or the fetal face shape are abnormal. Fetal karyotype is recommended and DNA testing plays a critical role in achieving an appropriate diagnosis, when possible. The prognosis of craniosynostosis is primarily dependent on the presence of associated anomalies as craniosynostosis are correlated with three to fivefold increased risk for cognitive disabilities.
Tonni
Gabriele
G
Division of Obstetrics and Gynecology, Prenatal Diagnostic Center, Guastalla Civil Hospital, AUSL Reggio Emilia, Via Donatori Sangue, 1, 42016 Guastalla (Reggio Emilia), Italy. Tonni.Gabriele@ausl.re.it
Panteghini
Marco
M
Rossi
Andrea
A
Baldi
Maurizia
M
Magnani
Cinzia
C
Ferrari
Bruno
B
Lituania
Mario
M
D000328:Adult; D002490:Central Nervous System / Q000254:growth & development; D002657:Child Development; D002675:Child, Preschool; D003398:Craniosynostoses / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D055815:Young Adult