Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity.
A case with a severe midline craniofacial defect, comprising a midline cleft lip and palate with a sphenoethmoidal encephalocele, hypertelorism, bilateral dysplastic optic discs and agenesis of the corpus callosum is described. The optic discs are consistent with the spectrum of appearances seen in the Morning Glory Disc Anomaly (MGDA). This anomaly is usually a uniocular problem that may be rarely associated with craniofacial abnormalities. Despite this range of abnormalities this child was developing well with a specific motor delay at the age of eight months. Cases with similar midline craniofacial abnormalities from the literature are reviewed. This condition appears to be a distinct entity within the spectrum of frontonasal dysplasia.
Leitch
R J
RJ
Institute of Child Health, London, UK.
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002971:Cleft Lip / Q000235:genetics / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics / Q000473:pathology; D003337:Corpus Callosum / Q000473:pathology; D004677:Encephalocele / Q000235:genetics / Q000473:pathology; D005004:Ethmoid Bone / Q000002:abnormalities / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013100:Sphenoid Bone / Q000002:abnormalities / Q000473:pathology