Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?
We report a child with multiple anomalies that was born to healthy nonconsanguineous parents after an unremarkable pregnancy. The female infant had bilateral cleft lip and palate, bilateral toe syndactyly (second and third with no bony fusion), multiple bilateral periorbital tumors, ectropion, lagophthalmos, strabismus and prominent eyes. High frontal hairline and everted lower lip were also noted. Soon after delivery, she was referred to the 'Cleft Clinic' where she underwent cleft lip and palate repair. Seven dermoid cysts were also removed from both periorbital areas. Follow-up documented moderate developmental retardation, hypothyroidism and hydronephrosis. Although some features of our patient overlap with those described in ectrodactyly, ectodermal dysplasia and cleft lip/palate, Martinez, Zlotogora-Ogur, Filippi, Freihofer and Blepharocheilodontic syndromes, our patient has a combination of features not previously reported.
Fodor
Lucian
L
Department of Plastic and Reconstructive Surgery Institute of Human Genetics, Rambam Medical Center, The Faculty of Medicine, Technion-Israel Institute of Technology, Haifa Israel.
Baruch-Gershoni
Ruth
R
Ullmann
Yehuda
Y
D000015:Abnormalities, Multiple / Q000473:pathology*; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D003409:Congenital Hypothyroidism / Q000473:pathology; D003884:Dermoid Cyst / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000473:pathology; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008046:Lip / Q000002:abnormalities; D009056:Mouth Abnormalities / Q000473:pathology*; D009918:Orbital Neoplasms / Q000473:pathology*; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities