Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.
The Blepharocheilodontic (BCD) syndrome (MIM119580) and lagophthalmos syndrome (MIM600990), have striking overlap in their clinical presentation. We describe a child with manifestations of both syndromes, supporting the proposal that the two entities represent a continuum of a wider syndrome.
Winship
Ingrid
I
Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.
Aftimos
Salim
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D003937:Diagnosis, Differential; D005141:Eyelid Diseases / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities; D006801:Humans; D008297:Male; D013064:Speech Disorders / Q000473:pathology; D013577:Syndrome; D014071:Tooth Abnormalities