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Polydactyly With Ectodermal Defect, Osteopenia, and Mental Delay

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, zannolli{at}unisi.it

Sabrina Buoni, MD, PhD

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics

Massimo Viviano, MD

Department of Odontostomatological Sciences, Azienda Ospedaliera Universitaria Senese

Francesca Macucci, MD

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics

Alfonso D'Ambrosio, MD

Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics

Walter Livi, MD

Department of ENT, Azienda Ospedaliera Universitaria Senese

Maria Antonietta Mazzei, MD

Department of Human Pathology and Oncology, Azienda Ospedaliera Universitaria Senese

Francesco Mazzei, MD

Department of Human Pathology and Oncology, Azienda Ospedaliera Universitaria Senese

Palmino Sacco, MD

Department of Human Pathology and Oncology, Azienda Ospedaliera Universitaria Senese

Luca Volterrani, MD

Department of Human Pathology and Oncology, Azienda Ospedaliera Universitaria Senese

Giuseppina Vonella, MD

Section of Radiology and Radiotherapy, and Pediatrics Neuropsychiatric Unit Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Italy

Alessandra Orsi, PhD

Section of Radiology and Radiotherapy, and Pediatrics Neuropsychiatric Unit Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Italy

Michele Zappella, MD

Section of Radiology and Radiotherapy, and Pediatrics Neuropsychiatric Unit Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Italy

Joseph Hayek, MD

Section of Radiology and Radiotherapy, and Pediatrics Neuropsychiatric Unit Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte, University of Siena, Italy

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.

Key Words: ectodermal defect • mental delay • osteopenia • polydactyly

This version was published on June 1, 2008

Journal of Child Neurology, Vol. 23, No. 6, 683-689 (2008)
DOI: 10.1177/0883073807309778


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