D. Kumar et al., A DISTINCT SYNDROME OF FAMILIAL CLEFT-LIP AND PALATE WITH PROMINENT EYES AND CHARACTERISTIC FACIES IN 2 UNRELATED FAMILIES, Clinical dysmorphology, 5(4), 1996, pp. 295-301
A variable degree of facial and oral clefting segregating with the cha
racteristic facies, wide set prominent eyes, a broad nasal tip, and pr
otruding external ears is described in several individuals spread over
four generations in a British family and over two generations in a Sp
anish family. None of the affected individuals have any other developm
ental anomaly. The occurrence of oral and facial clefting associated w
ith prominent eyes and characteristic facies probably indicates the ex
istence of a distinct autosomal dominant syndrome.