A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.
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, nasolacrimal 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.
Pavone
L
L
Clinica Pediatrica, Università di Catania, Italy.
Rizzo
R
R
Tiné
A
A
Micali
G
G
Sorge
G
G
Neri
G
G
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001132:Arm / Q000002:abnormalities; D002971:Cleft Lip / Q000150:complications / Q000235:genetics; D002972:Cleft Palate / Q000150:complications / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D005260:Female; D006801:Humans; D013577:Syndrome