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Page 1
Ambras syndrome: A rare case report.
Ishita A, Sujatha GP, Pramod GV, Ashok L. Ishita A, et al. J Indian Soc Pedod Prev Dent. 2016 Apr-Jun;34(2):189-91. doi: 10.4103/0970-4388.180452. J Indian Soc Pedod Prev Dent. 2016. PMID: 27080973
Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. ...
Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. ...
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery.
Kurian C, Pinamonti G, Starling Hughes S, Martin J, Lypka M. Kurian C, et al. Cleft Palate Craniofac J. 2020 Feb;57(2):249-254. doi: 10.1177/1055665619868043. Epub 2019 Aug 11. Cleft Palate Craniofac J. 2020. PMID: 31401848
Cantu syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disorder is characterized by congenital generalized hypertrichosis, coarse acromegaloid facial features (broad nasal bridge, …
Cantu syndrome (CS) is a rare autosomal dominant disorder caused by a heterozygous pathogenic variant in the ABCC9 or KCNJ8 gene. The disord …
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N. Afifi HH, et al. Am J Med Genet A. 2015 Oct;167A(10):2418-24. doi: 10.1002/ajmg.a.37185. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033841
Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenital generalized hypertrichosis terminalis (CGHT) with or without gingival hyperplasia. ...
Recent studies have implicated chromosome 17q24.2-q24.3 microdeletion and the reciprocal microduplication in a very rare form of congenit
Congenital generalized terminal hypertrichosis with gingival hyperplasia.
Guevara-Sanginés E, Villalobos A, Vega-Memije ME, Mosqueda-Taylor A, Canún-Serrano S, Lacy-Niebla RM. Guevara-Sanginés E, et al. Pediatr Dermatol. 2002 Mar-Apr;19(2):114-8. doi: 10.1046/j.1525-1470.2002.00055.x. Pediatr Dermatol. 2002. PMID: 11994171
Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congeni
Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that …
Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome.
Giacaman A, Corral-Magaña O, Saus Sarrias C, González-López G, Asensio Landa VJ, Martín-Santiago A. Giacaman A, et al. Pediatr Dermatol. 2024 Mar-Apr;41(2):307-310. doi: 10.1111/pde.15436. Epub 2023 Oct 10. Pediatr Dermatol. 2024. PMID: 37817291
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and p …
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy …