Frontonasal dysplasia with optic disc anomalies and other midline craniofacial defects: a report of six cases.
The association of optic disc abnormalities with basal encephaloceles, specifically of the sphenoethmoidal type, and midline facial clefts has rarely been reported, although the association of midline facial clefts with encephaloceles is well described. We now report six cases of children, three males and three females, presenting with a sphenoethmoidal encephalocele, optic disc anomalies, midline facial clefting, hypertelorism, complete or partial agenesis of the corpus callosum, and endocrinological disturbances, including diabetes insipidus and pituitary dysfunction. This report underlines the importance of careful ophthalmic and endocrinological investigation of children with midline clefts associated with basal encephaloceles. These cases may represent a distinct entity within the spectrum of frontonasal dysplasia.
Lees
M M
MM
Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, London.
Hodgkins
P
P
Reardon
W
W
Taylor
D
D
Stanhope
R
R
Jones
B
B
Hayward
R
R
Hockley
A D
AD
Baraitser
M
M
Winter
R M
RM
D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D009898:Optic Disk / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*