Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations.
OBJECTIVE
To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome.


METHODS
A family study of eight individuals with LADD syndrome.


METHODS
Pediatric Clinical Research Center at Oakland Children's Hospital.


METHODS
Eight individuals in a four-generation family.


METHODS
A diagnosis of LADD syndrome was determined by the presence of one or more of the characteristic lacrimal duct, auricular, dental, or digital malformations. Tear function and orofacial clefting were also considered in the final diagnosis of LADD syndrome.


RESULTS
Affected family members had the characteristic features of LADD syndrome, including cup-shaped ears; lacrimal duct obstruction; and dental, forearm, and digit malformations. In addition to the cardinal features of LADD syndrome, the proband was born with cleft lip and palate. The mother and sister of the proband have hydronephrosis, a rare feature of the disorder. Family members also have features not previously described in LADD syndrome, including vesicoureteral reflux, recurrent urinary tract infections, camptodactyly, distal thumb symphalangism, and a bicornuate uterus.


CONCLUSIONS
The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patients and that the distinction of LADD syndrome from ectrodactyly-ectodermal dysplasia and clefting syndrome by the absence of clefting may need to be reconsidered.
Ramirez
Dorian
D
Children's Hospital Research Institute, 5700 Martin Luther King Jr. Boulevard, Oakland, CA 94609, USA.
Lammer
Edward J
EJ
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002648:Child; D002971:Cleft Lip; D002972:Cleft Palate; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006801:Humans; D006869:Hydronephrosis; D007767:Lacrimal Duct Obstruction; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities