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Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome?
Clin Dysmorphol. 2006 Jul; 15(3):161-3.CD

Abstract

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.

Authors+Show Affiliations

Department of Plastic and Reconstructive Surgery, Rambam Medical Center, The Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16760736

Citation

Fodor, Lucian, et al. "Multiple Periorbital Dermoid Cysts, Clefting and Mental Retardation: a New Malformation Syndrome?" Clinical Dysmorphology, vol. 15, no. 3, 2006, pp. 161-3.
Fodor L, Baruch-Gershoni R, Ullmann Y. Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome? Clin Dysmorphol. 2006;15(3):161-3.
Fodor, L., Baruch-Gershoni, R., & Ullmann, Y. (2006). Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome? Clinical Dysmorphology, 15(3), 161-3.
Fodor L, Baruch-Gershoni R, Ullmann Y. Multiple Periorbital Dermoid Cysts, Clefting and Mental Retardation: a New Malformation Syndrome. Clin Dysmorphol. 2006;15(3):161-3. PubMed PMID: 16760736.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple periorbital dermoid cysts, clefting and mental retardation: a new malformation syndrome? AU - Fodor,Lucian, AU - Baruch-Gershoni,Ruth, AU - Ullmann,Yehuda, PY - 2006/6/9/pubmed PY - 2006/9/6/medline PY - 2006/6/9/entrez SP - 161 EP - 3 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 15 IS - 3 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/16760736/Multiple_periorbital_dermoid_cysts_clefting_and_mental_retardation:_a_new_malformation_syndrome L2 - https://doi.org/10.1097/01.mcd.0000220606.32531.52 DB - PRIME DP - Unbound Medicine ER -