Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report.
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.
Holder-Espinasse
M
M
Department of Genetics, Necker Enfants-Malades Hospital, Paris, France.
de Blois
M C
MC
Faivre
L
L
Romana
S
S
Uteza
Y
Y
Munnich
A
A
Lyonnet
S
S
Cormier-Daire
V
V
Amiel
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005140:Eyelashes / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007765:Lacrimal Apparatus / Q000002:abnormalities*; D008297:Male; D011859:Radiography