Prenatal and postnatal findings of acrania.
BACKGROUND
Acrania is a rare congenital anomaly in which the flat bones of the cranial vault are partial or complete absent with complete but abnormal development of the cerebral hemispheres.


METHODS
We report two cases, diagnosed prenatally by ultrasound and followed by medical pregnancy termination, one with isolated acrania and one with associated cleft lip and palate and spina bifida.


CONCLUSIONS
The acrania pathogenesis is unknown and differential diagnosis should be made with other conditions like anencephaly and acalvaria. Genetic counselling is not easy because there is no evidence for a specific genetic origin, but the extreme rarity and sporadic nature suggests a low recurrence risk.
Bianca
S
S
Registro Siciliano Malformazioni Congenite, P.O. Garibaldi-Nesima, Via Palermo, 95123 Catania, Italy. sebastiano.bianca@tiscali.it
Ingegnosi
C
C
Auditore
S
S
Reale
A
A
Galasso
M G
MG
Bartoloni
G
G
Arancio
A
A
Ettore
G
G
D000028:Abortion, Induced; D001921:Brain / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005817:Genetic Counseling; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012886:Skull / Q000002:abnormalities* / Q000196:embryology; D016135:Spinal Dysraphism / Q000175:diagnosis* / Q000196:embryology; D016216:Ultrasonography, Prenatal