Oral-Facial-Digital Syndrome Type 1: A Case Report and Review
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Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female pre- sented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anoma- lies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.
Abstract
Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female pre- sented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anoma- lies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.
참고문헌 (17)
- Franco B, "Update on oral-facial-digital syndromes(OFDS)", Cilia, 5, pp.12~ (2016)
- Adyanthaya A, "Oral-facial-digital syndrome type 1 : a review", Bangladesh J Med Sci, 14, pp.130~134 (2015)
- Feather SA, "The oralfacial-digital syndrome type 1(OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22. 2-Xp22. 3", Hum Mol Genet, 6, pp.1163~1167 (1997)
- Macca M, "The molecular basis of oral-facial-digital syndrome, type 1", Am J Med Genet C Semin Med Genet, 151, pp.318~332 (2009)
- Nanda A, "Multiple milia in a newborn with congenital malformations : oral-facial-digital syndrome type 1", Pediatr Dermatol, 27, pp.669~670 (2010)
- "Revue Stomatol", 1954, 209~227
- Gurrieri F, "Oral-facial-digital syndromes : review and diagnostic guidelines", Am J Med Genet A, 143, pp.3314~3323 (2007)
- Berk DR, "Milia : a review and classification", J Am Acad Dermatol, 59, pp.1050~1063 (2008)
- Patrizi A, "What syndrome is this? Oro-facio-digital type 1 syndrome of Papillon-Léage and Psaume", Pediatr Dermatol, 16, pp.329~331 (1999)
- Thauvin-Robinet C, "Clinical, molecular, and genotypephenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1 : a French and Belgian collaborative study", J Med Genet, 43, pp.54~61 (2006)
- Sukarova-Angelovska E, "The many faces of oral-facial-digital syndrome", Balkan J Med Genet, 15, pp.37~44 (2012)
- Romio L, "OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells", J Am Soc Nephrol, 14, pp.680~689 (2003)
- Prattichizzo C, "Mutational spectrum of the oral-facial-digital type I syndrome : a study on a large collection of patients", Hum Mutat, 29, pp.1237~1246 (2008)
- Thauvin-Robinet C, "Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene", Am J Med Genet A (2009)
- Kumar V, "Oculodentodigital dysplasia : a case report and major review of the eye and ocular adnexa features of 295 reported cases", Case Rep Ophthalmol Med, 2020, pp.6535974~ (2020)
- Sharp AJ, "A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures", Nat Genet, 40, pp.322~328 (2008)
- Temtamy SA, "Brachydactyly", Orphanet J Rare Dis, 3, pp.15~ (2008)