Prenatal diagnosis of cloverleaf skull: watch the hands!
Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal cloverleaf skull deformity. Three types have been described, each with a different prognosis. This case report stresses the need to thoroughly analyze the fetus and particularly the fetal hands in case of prenatal observation of a cloverleaf skull. The discovery of characteristic hand abnormalities allowed the early prenatal detection of type 2 Pfeiffer syndrome in our patient.
Department of Pediatric Imaging, Sainte Justine Hospital, Montreal, Canada. ggorincour@voila.fr
Guillaume
G
Gorincour
Françoise
F
Rypens
Andrée
A
Grignon
Laurent
L
Garel
Patricia
P
Bortoluzzi
Luc
L
Oligny
Emmanuelle
E
Lemyre
Louise
L
Duperron
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000473:pathology; D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000473:pathology; D000328:Adult; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D016216:Ultrasonography, Prenatal