A distinct syndrome of familial cleft lip and palate with prominent eyes and characteristic facies in two unrelated families.
A variable degree of facial and oral clefting segregating with the characteristic facies, wide set prominent eyes, a broad nasal tip, and protruding external ears is described in several individuals spread over four generations in a British family and over two generations in a Spanish family. None of the affected individuals have any other developmental anomaly. The occurrence of oral and facial clefting associated with prominent eyes and characteristic facies probably indicates the existence of a distinct autosomal dominant syndrome.
Kumar
D
D
Centre for Human Genetics, Children's Hospital, Sheffield, UK.
Garcia-Minaur
S
S
Quarrell
O W
OW
Landa
G
G
Garaizar
C
C
D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree