Lacrimoauriculodentodigital syndrome with cleft lip/palate and renal manifestations

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
Dorian Ramirez, Edward J Lammer

Abstract

To describe the largest family reported with the lacrimoauriculodentodigital (LADD) syndrome. A family study of eight individuals with LADD syndrome. Pediatric Clinical Research Center at Oakland Children's Hospital. Eight individuals in a four-generation family. 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. 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. The findings suggest that the presence of vesicoureteral reflux and recurrent urinary tract infections should be evaluated in LADD syndrome patien...Continue Reading

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Citations

Oct 26, 2011·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Jamie L PerryBradley P Sutton
Nov 20, 2012·Indian Journal of Human Genetics·Rosamma Joseph, Sameera G Nath
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May 9, 2014·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Ilza Lazarini MarquesWilliam N Williams
Jan 12, 2016·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Jeffrey A ThompsonThomas J Sitzman
Nov 18, 2015·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Luo DongyuanHao Jiansuo
Jan 4, 2017·The Journal of the American Dental Association·M J HajianpourJeff M Milunsky
Jul 28, 2020·Molecular Genetics & Genomic Medicine·Young Hye RyuSoyoung Lee

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