Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
A mother and daughter are reported with apparently dissimilar syndromes. The mother has a split hand/split foot deformity and the daughter a condition consistent with a diagnosis of LADD syndrome. Absence of clefting and deficient formation of saliva and tears are the main signs that differentiate the LADD from the EEC syndrome. However, no distinct feature is constant between these two autosomal dominant disorders that show great phenotypic variability. This report emphasises the overlap between the LADD and the EEC syndromes.
Lacombe
D
D
Department of Paediatrics and Medical Genetics, Pellegrin-Children's Hospital, Bordeaux, France.
Serville
F
F
Marchand
D
D
Battin
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D007765:Lacrimal Apparatus / Q000002:abnormalities; D013577:Syndrome; D014094:Tooth, Deciduous / Q000002:abnormalities