Polydactyly with ectodermal defect, osteopenia, and mental delay.
Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail-teeth dysplasia, (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome.
Zannolli
Raffaella
R
Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
Buoni
Sabrina
S
Viviano
Massimo
M
Macucci
Francesca
F
D'Ambrosio
Alfonso
A
Livi
Walter
W
Mazzei
Maria Antonietta
MA
Mazzei
Francesco
F
Sacco
Palmino
P
Volterrani
Luca
L
Vonella
Giuseppina
G
Orsi
Alessandra
A
Zappella
Michele
M
Hayek
Joseph
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D001851:Bone Diseases, Metabolic / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics*; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics