A case of the Freire-Maia odontotrichomelic syndrome: Nosology with EEC syndrome

✍ Scribed by Pavone, Lorenzo ;Rizzo, Renata ;Tiné, Alessandra ;Micali, Giuseppe ;Sorge, Giovanni ;Neri, Giovanni

• Book ID: 101445014
• Publisher: John Wiley and Sons
• Year: 1989
• Tongue: English
• Weight: 386 KB
• Volume: 33
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320330211

✦ Synopsis

We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacri-ma1 duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.