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KBG syndrome.
Morel Swols D, Foster J 2nd, Tekin M. Morel Swols D, et al. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. Orphanet J Rare Dis. 2017. PMID: 29258554 Free PMC article. Review.
The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975. EPIDEMIOLOGY: The prevalence of KBG syndrome is not established. There are over 100 patients reported in the literature. ...
The condition was named KBG syndrome after the initials of the last names of three original families reported in 1975. EPIDEMI …
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Choi Y, Choi J, Do H, Hwang S, Seo GH, Choi IH, Keum C, Choi JH, Kang M, Kim GH, Yoo HW, Lee BH. Choi Y, et al. Mol Genet Genomic Med. 2023 Apr;11(4):e2127. doi: 10.1002/mgg3.2127. Epub 2022 Dec 23. Mol Genet Genomic Med. 2023. PMID: 36564961 Free PMC article. Review.
RESULTS: Eight patients from seven unrelated families were confirmed with KBG syndrome. All patients (8/8, 100%) had some degree of craniofacial dysmorphism and developmental delay or intellectual disabilities. ...CONCLUSION: The clinical and molecular features of e …
RESULTS: Eight patients from seven unrelated families were confirmed with KBG syndrome. All patients (8/8, 100%) had some degr …
KBG syndrome presenting with brachydactyly type E.
Libianto R, Wu KH, Devery S, Eisman JA, Center JR. Libianto R, et al. Bone. 2019 Jun;123:18-22. doi: 10.1016/j.bone.2019.03.012. Epub 2019 Mar 12. Bone. 2019. PMID: 30877071 Review.
Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic brac …
Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical f …
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an international network. We evaluated the original imaging and compared our results with data in the literature. ...Additional features included pat …
METHODS: CNS and/or skeletal imaging were collected from molecularly confirmed individuals with KBG syndrome through an intern …
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clini …
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, ske …
KBG syndrome: review of the literature and findings of 5 affected patients.
Kumar H, Prabhu N, Cameron A. Kumar H, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009 Sep;108(3):e72-9. doi: 10.1016/j.tripleo.2009.04.035. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009. PMID: 19716495 Review.
KBG syndrome is a rare, multiple congenital anomaly/mental retardation (MCA/MR) syndrome characterized by neurological disturbance, short stature, a distinct craniofacial appearance, and skeletal anomalies. ...
KBG syndrome is a rare, multiple congenital anomaly/mental retardation (MCA/MR) syndrome characterized by neurological disturb …
[Audiological phenotypes of KBG syndrome: a case report and literatures review].
Su W, Xia Y, Xia C, Liu Y. Su W, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct;36(10):797-801. doi: 10.13201/j.issn.2096-7993.2022.10.014. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022. PMID: 36217662 Free PMC article. Review. Chinese.
KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 gene. ...The aim of this article was to briefly analyze the audiological phenotypic characteristics of KBG syndrome and hope to …
KBG syndrome is an uncommon autosomal dominant inheritance disease involving multiple systems caused by mutations of ANKRD11 g …
Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
Bianchi PM, Bianchi A, Digilio MC, Tucci FM, Sitzia E, De Vincentiis GC. Bianchi PM, et al. Int J Pediatr Otorhinolaryngol. 2017 Dec;103:109-112. doi: 10.1016/j.ijporl.2017.10.017. Epub 2017 Oct 12. Int J Pediatr Otorhinolaryngol. 2017. PMID: 29224748 Review.
KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD1 …
KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, sho …
Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA. Hutchison DM, et al. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):536-546. doi: 10.1111/jdv.17877. Epub 2021 Dec 31. J Eur Acad Dermatol Venereol. 2022. PMID: 34919300 Review.
Congenital disorders associated with lengthened eyelashes included Cantu syndrome, CHOPS syndrome, Coffin-Siris syndrome, congenital heart disease, Cornelia de Lange syndrome, Costello syndrome, familial trichomegaly, Floating Harbor syndrome, Hermansky-Pudlak syndrome, Kabuki-Ma …
Congenital disorders associated with lengthened eyelashes included Cantu syndrome, CHOPS syndrome, Coffin-Siris syndrome, congenital heart d …
16 results