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http://dx.doi.org/10.5933/JKAPD.2022.49.2.234

Dental and Skeletal Characteristics and Behavioral Aspects of the Patient with Floating-Harbor Syndrome Compared with Twin Sister  

Jonghwa, Lim (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Gimin, Kim (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Jaesik, Lee (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Soonhyeun, Nam (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Hyunjung, Kim (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Publication Information
Journal of the korean academy of Pediatric Dentistry / v.49, no.2, 2022 , pp. 234-240 More about this Journal
Abstract
Floating-Harbor syndrome (FHS) is a rare genetic disorder. This report introduced in a patient with FHS. Distinctive facial characteristics, severe skeletal class 3 malocclusion with underdeveloped maxilla and protruded mandible, congenital missing teeth, microdontia and ectopic positions of maxillary teeth were presented in the patient. In his twin sister, mild skeletal class 3 malocclusion with protruded mandible was observed but congenital missing teeth and microdontia were not observed. High-arched palate, narrow V-shaped maxillary arch compared to wide and ovoid mandibular arch and inverse relationship between the maxillary and mandibular intermolar width resulted in posterior crossbite were confirmed by model analysis of the patient. These were not observed in the twins. Behaviorally, poor cooperation during dental treatment because of mental retardation was observed in the patient.
Keywords
Floating-Harbor syndrome; Dental and skeletal characteristics; Behavioral aspects; Twins;
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1 Nikkel SM, Dauber A, Boycott KM, et al. : The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis, 8:1-9, 2013.   DOI
2 Kehrer M, Beckmann A, Tzschach A, et al. : Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet, 85:498-499, 2013.   DOI
3 Seifert W, Meinecke P, Horn D, et al. : Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC Med Genet, 15:1-5, 2014.   DOI
4 Hood RL, Lines MA, FORGE Canada Consortium, et al. : Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet, 90:308-313, 2012.   DOI
5 Budisteanu M, Bogershausen N, Wollnik B, et al. : FloatingHarbor syndrome: presentation of the first Romanian patient with a SRCAP mutation and review of the literature. Balkan J Med Genet, 21:83-86, 2018.   DOI
6 Messina G, Atterrato MT, Dimitri P : When chromatin organisation floats astray: the Srcap gene and FloatingHarbor syndrome. J Med Genet, 53:793-797, 2016.   DOI
7 White SM, Morgan A, Hurst JA, et al. : The phenotype of Floating-Harbor syndrome in 10 patients. Am J Med Genet A, 152:821-829, 2010.
8 Bastaki L, El-Nabi MM, Naguib KK, et al. : Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. East Mediterr Health J, 13:975-979, 2007.
9 Arpin S, Afenjar A, Heron D, et al. : Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol, 21:11-14, 2012.   DOI
10 Zhang S, Chen S, Shen Y, et al . : Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet J Rare Dis, 14:1-11, 2019.   DOI
11 De Benedetto MS, Mendes FM, Ciamponi AL, et al. : Floating-Harbor Syndrome: case report and craniofacial phenotype characterization. Int J Paediatr Dent, 14:208-213, 2004.   DOI
12 Houlston RS, Collins AL, Dennis NR, Temple IK : Further observations on the Floating-Harbor syndrome. Clin Dysmorphol, 3:143-149, 1994.
13 Majewski F, Lenard HG : The Floating-Harbor syndrome. Eur J Pediatr, 150:250-252, 1991.   DOI
14 Smeets E, Fryns JP, Van den Berghe H : The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. Genet Couns, 7:143-146, 1996.
15 Singh A, Bhatia HP, Mohan A, et al. : A novel finding of oligodontia and ankyloglossia in a 14-year-old with FloatingHarbor syndrome. Spec Care Dentist, 37:318-321, 2017.   DOI
16 Ala-Mello S, Peippo M : Two more diagnostic signs in the Floating-Harbor syndrome. Clin Dysmorphol, 5:85-88, 1996.   DOI
17 Ala-Mello S, Peippo M : The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. Am J Med Genet, 130:317-319, 2004.   DOI
18 Midro AT, Olchowik B, Wisniewski A : Floating Harbor syndrome. Case report and further syndrome delineation. Ann Genet, 40:133-138, 1997.
19 Choi EM, Lee DH, Jang JH, et al. : The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. Korean J Pediatr, 61:403-406, 2018.
20 Bamshad, Michael J, Shendure J, et al. : Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet, 12:745-755, 2011.   DOI
21 Amita M, Srivastava P, Agarwal D, Phadke SR : Floating harbor syndrome. Indian J Pediatr, 83:896-897, 2016.   DOI
22 Karaer K, Karaoguz MY, Percin EF, et al. : Floating-Harbor syndrome: A first female Turkish patient? Genet Couns, 17:465-468, 2006.
23 Paluzzi A, Viva LJ, Patton MA, et al. : Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. Clin Dysmorphol, 17:283-285, 2008.   DOI
24 Dempsey PJ, Townsend GC : Genetic and environmental contributions to variation in human tooth size. Heredity (Edinb), 86:685-693, 2001.   DOI