Ablepharon-macrostomia syndrome in a 46-year-old woman.
Ablepharon-macrostomia syndrome (AMS) is a rare condition reported to date in 13 patients worldwide. AMS is characterized by absent or short eyelids, absent eyebrows and eyelashes, macrostomia, and external ear abnormalities. Additional features include alopecia or sparse hair, hypoplastic malar region, redundant skin, rudimentary nipples, abnormal genitalia. While the AMS phenotype is well delineated in infants and children, clinical manifestations are rather poorly characterized in adulthood. Here, we report on an Italian woman who received a diagnosis of AMS at the age of 46 years after several surgical treatments. A clinical comparison between our patient and previously reported AMS cases aids in delineating the adult phenotype of AMS and further broadens the clinical spectrum of this condition.
Brancati
Francesco
F
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.|Department of Experimental Medicine and Pathology, University "La Sapienza," Rome, Italy.
Mingarelli
Rita
R
Department of Experimental Medicine and Pathology, University "La Sapienza," Rome, Italy.
Sarkozy
Anna
A
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.|Department of Experimental Medicine and Pathology, University "La Sapienza," Rome, Italy.
Dallapiccola
Bruno
B
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.|Department of Experimental Medicine and Pathology, University "La Sapienza," Rome, Italy.
D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000175:diagnosis*; D005145:Face / Q000002:abnormalities; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D008265:Macrostomia / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D011859:Radiography; D013577:Syndrome