Craniofrontonasal dysplasia.
We report on nine patients with craniofrontonasal dysplasia (CFND). Seven classical cases had facial features suggestive of frontonasal dysplasia and coronal craniosynostosis. Extracranial abnormalities such as brittle nails with prominent longitudinal grooves or syndactyly of fingers and toes were observed in individual patients. In two families the father of classical cases showed a milder pattern of abnormalities, consistent with the diagnosis. We present a 2- to 13-year follow-up on our patients. Hypotonia and laxity of joints are common and may necessitate supportive measures. Mild developmental delay was noted in three out of six classical cases studied in detail. Unlike almost all other X-linked disorders, clinical expression in CFND is generally much more severe in females than in males. In contrast to previous reports of this condition, one of our severely affected cases is a male.
Kapusta
L
L
Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
Brunner
H G
HG
Hamel
B C
BC
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D000328:Adult; D002648:Child; D002657:Child Development; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005500:Follow-Up Studies; D006128:Growth; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009264:Nails, Malformed; D012886:Skull / Q000002:abnormalities*; D014034:Toes / Q000002:abnormalities