2001
DOI: 10.1097/00019605-200110000-00003
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Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

Abstract: We report a male patient presenting with the association of absent lacrimal ducts, distichiasis, dysmorphic facial features and limb abnormalities. Extensive chromosomal studies showed normal chromosomes. We discuss differential diagnoses such as Setleis, Char and Lacrimo-Auriculo-Dento-Digital (LADD) syndromes. This may represent a novel entity for which parental consanguinity would support an autosomal recessive mode of inheritance.

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“…[ 21 22 ] Congenital distichiasis can occur as an isolated condition, part of a syndrome like Setlis syndrome, or isolated with dysmorphic features, absent lacrimal ducts, and limb abnormalities. [ 23 24 ] Truncating mutations (missense, frameshift, and nonsense) in the Forkhead family gene FOXC2 located on chromosome 16q24.3 gene are involved in distichiasis–lymphedema syndrome. [ 22 25 26 ] No link has been established between the type of mutation and clinical phenotype.…”
Section: Congenital Distichiasismentioning
confidence: 99%
“…[ 21 22 ] Congenital distichiasis can occur as an isolated condition, part of a syndrome like Setlis syndrome, or isolated with dysmorphic features, absent lacrimal ducts, and limb abnormalities. [ 23 24 ] Truncating mutations (missense, frameshift, and nonsense) in the Forkhead family gene FOXC2 located on chromosome 16q24.3 gene are involved in distichiasis–lymphedema syndrome. [ 22 25 26 ] No link has been established between the type of mutation and clinical phenotype.…”
Section: Congenital Distichiasismentioning
confidence: 99%