[A new case of fronto-nasal dysplasia associated with craniosynostosis].
The Authors report a case of frontonasal dysplasia, a rare congenital syndrome, accompanied by multiple cranial synostosis. According to Cohen, frontonasal dysplasia associated with craniosynostosis may be considered as a separate syndrome and Cohen himself has described its occurrence in members of two families as "Craniofrontonasal Dysplasia". The Authors describe a sporadical case presenting various minor abnormality reported by Cohen, in addition to the hypoplasia of the corpus callosum, demonstrated by the Cranial Ultrasonography and by the NMR study of the brain.
Calzolari
C
C
Dipartimento di Pediatra, Università di Firenze, Italia.
Seracini
D
D
Burgio
G
G
Gaeta
G
G
Marvulli
I
I
Giovannucci-Uzielli
M L
ML
Scarano
E
E
Pacini
M
M
D061085:Agenesis of Corpus Callosum; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003398:Craniosynostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005260:Female; D005624:Frontal Bone / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D009295:Nasal Bone / Q000002:abnormalities*; D011859:Radiography; D014463:Ultrasonography
Una nuova osservazione di displasia fronto-nasale associata a craniosinostosi.