
B
Barraquer-Simons sendromu
Nedeni bilinmiyor (otoimmun hastalık kuşkusu)
Edinsel bir lipodistrofi türü
Baş-boyun ve yüz çevresi ile toraks yağ dokusunun progressif atrofisi
Diabetes mellitus
Hipertrigliseridemi
Hipokomplemantemi
Karaciğer yağlanması
Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. Journal of Human Genetics, 59(1):16-23, 2014
Simsek-Kiper PO, Roach E, Utine GE, Boduroglu K. Barraquer-Simons syndrome: a rare clinical entity. American Journal of Medical Genetics A, 164A(7):1756-1760, 2014
Akinci B, Koseoglu FD, Onay H, et al. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. Metabolism, 64(9):1086-1095, 2015
H
H
J
M
M
N
N
R
R
Z
Zunich nöroektodermal sendromu (CHIME sendromu)
Kalıtsal
Brakisefali
Belirgin alın çıkıntısı
Oksiput düz
Ense kalın
Saçlar seyrek, ince ve soluk renkli
Kıvrık kulaklar
İşitme sorunları
Retinal koloboma
Hipertelorizm
Yayvan burun
Filtrum kısa
Kalın dudaklar
Yarık damak
Kesici dişlerde yarıklar
Fallot tetralojisi
Ventriküler septum defekti
Büyük damarlarda transpozisyon
Küçük meme uçları
Hidronefroz
Üreter anomalileri
Parmak anomalileri
Deride migratory ichthyosiform dermatosis
Avuçiçleri ve ayak tabanları derisi kalın
Zeka geriliği
Hipotoni
Epileptik ataklar
Serebral atrofi
Agresif davranışlar
-
Zunich J, Esterly NB, Kaye CI. Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Archives of Dermatology, 124: 1188-1189, 1988
-
Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Journal of Medical Genetics, 32: 465-469, 1995
-
Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H. Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. Pediatic Dermatology, 13: 363-371, 1996
-
Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics, 90: 685-688, 2012
Z
Zunich nöroektodermal sendromu (CHIME sendromu)
Kalıtsal
Brakisefali
Belirgin alın çıkıntısı
Oksiput düz
Ense kalın
Saçlar seyrek, ince ve soluk renkli
Kıvrık kulaklar
İşitme sorunları
Retinal koloboma
Hipertelorizm
Yayvan burun
Filtrum kısa
Kalın dudaklar
Yarık damak
Kesici dişlerde yarıklar
Fallot tetralojisi
Ventriküler septum defekti
Büyük damarlarda transpozisyon
Küçük meme uçları
Hidronefroz
Üreter anomalileri
Parmak anomalileri
Deride migratory ichthyosiform dermatosis
Avuçiçleri ve ayak tabanları derisi kalın
Zeka geriliği
Hipotoni
Epileptik ataklar
Serebral atrofi
Agresif davranışlar
-
Zunich J, Esterly NB, Kaye CI. Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Archives of Dermatology, 124: 1188-1189, 1988
-
Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Journal of Medical Genetics, 32: 465-469, 1995
-
Tinschert S, Anton-Lamprecht I, Albrecht-Nebe H, Audring H. Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities. Pediatic Dermatology, 13: 363-371, 1996
-
Ng BG, Hackmann K, Jones MA, et al. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. American Journal of Human Genetics, 90: 685-688, 2012
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
Z
Zellweger sendromu
Zhu-Tokita-Takenouchi-Kim (ZTTK) sendromu
Zimmermann-Laband sendromu
Zinsser-Cole-Engman sendromu
Zlotogora-Ogur sendromu
Zollinger-Ellison sendromu
ZTTK sendromu Bkz Zhu-Tokita-Takenouchi-Kim sendromu
Zunich nöroektodermal sendromu
ORTAK KAYNAKLAR
Maksillofasiyal Sendromların ve Patolojilerin büyük bölümüne özgü bulguları içeren kaynaklar listesi
Yazılı kaynaklar
-
Meskin LH, Gorlin RJ, Isaacson RJ. Abnormal morphology of the soft palate. II. The genetics of cleft uvula. Cleft Palate Journal, 2: 40-45, 1965
-
Schulze C. Developmental abnormalities of the teeth and jaws. In: Gorlin, R. J.; Goldman, H. M. (eds.): Thoma's Oral Pathology. 6th ed., pp. 96-183, C. V. Mosby, St. Louis, 1970
-
Stewart RE, Prescott GH. Heritable disorders affecting cementum and the periodontal structure. CV Mosby, St. Louis, 1976
-
Stricker M, Van der Meulen JC, Raphael B, Mazzola R. Craniofacial Malformations. Churchill Livingstone, Edinburgh, 1990
-
Preis S, Raymaekers-Buntinx I, Majewski F. Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses. American Journal of Medical Genetics, 56(2):155-160, 1995
-
Cohen MM Jr, Sven Kreiborg S. Perspectives on craniofacial syndromes, Acta Odontologica Scandinavica, 56(6):315-320, 1998
-
Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin HS, eds. Hematology of Infancy and Childhood. Vol 1. pp 237-335, Saunders, Philadelphia, 1998
-
Cohen MM Jr, MacLean RE. Craniosynostosis: Diagosis, Evaluation, and Management. Oxford University Press, NY, 2000
-
Wilson G, Cooley WC. Preventive Management of Children with Congenital Anomalies and Syndromes. Cambridge University Press, Cambridge, 2000
-
Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., pp. 3181-3218, McGraw-Hill, New York, 2001
-
Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001
-
Scriver CR, Beaudet AL, Sly WS, Valle D. The Metabolic and Molecular Bases of Inherited Disease. 8 ed., McGraw-Hill, New York, 2001
-
Cohen MM Jr. Malformations of the Craniofacial Region: Evolutionary, Embryonic, Genetic, and Clinical Perspectives. American Journal of Medical Genetics (Seminars in Medical Genetics), 115:245–268, 2002
-
Vogelstein B, Kingler RW (eds). The Genetic Basis of Human Cancer. 2 ed., McGraw-Hill, New York, 2002
-
Mooney MP, Siegel MI. Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting. Wiley-Liss, New York, 2002
-
Heliövaara A, Ranta R, Rautio J. Dental abnormalities in permanent dentition in children with submucous cleft palate, Acta Odontologica Scandinavica, 62(3):129-131, 2004
-
Non-s HV, Reardon W, Gorlin RJ. Hereditary Hearing Loss and its Syndromes. Oxford University Press, Oxford, 2004
-
DeLellis RA, Lloyd RV, Heitz PU, Eng C. Pathology and Genetics: Tumours of the Endocrine Organs. WHO Classification of Tumours Series. Vol 8, IARC Press, Lyon, 2004
-
Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: A comprehensive review. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 137C:53–71, 2005
-
Cohen MM Jr. Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions. American Journal of Medical Genetics, 140A:2013–2038, 2006
-
Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006
-
Everman DB. Hands and feet. In: Stevenson RE, Hall JG, eds. Human Malformations and Related Anomalies. 2 ed. pp. 935-996, Oxford University Press, New York, 2006
-
Coletta RD, Graner E. Hereditary gingival fibromatosis: a systematic review. Journal of Periodontology, 77(5):753-764, 2006
-
Allgayer H, Rehder H, Fulda S. Hereditary Tumors: From Genes to Clinical Consequences, Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany, 2008
-
Judith E. Allanson JE, Cunniff C, Hoyme HE, et al. Elements of Morphology: Standard Terminology for the Head and Face. American Journal of Medical Genetics, 149A(1): 6–28, 2009
-
Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. American Journal of Medical Genetics, 149A:1853–1859, 2009
-
Priolo M. Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms. American Journal of Medical Genetics, 149A:2003–2013, 2009
-
Visinoni AF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. American Journal of Medical Genetics, 149A:1980–2002, 2009
-
Allanson JE, Cunniff C, Hoyme HE, et al. Elements of morphology: standard terminology for the head and face. American Journal of Medical Genetics A, 149A:6–28, 2009
-
Hall BD, Graham JM Jr, Cassidy SB, Opitz JM. Elements of morphology: standard terminology for the periorbital region. American Journal of Medical Genetics A, 149A:29–39, 2009
-
Crino PB, Mehta R, Vintners HV. Pathogenesis of TSC in the brain. In: Kwiatkowski DJ, Whittemore VH, Thiele EA, eds. Tuberous Sclerosis Complex: Genes, Clinical Features, and Therapeutics. pp.161-185, Wiley-Blackwell, Weinheim, 2010
-
Sybert VP. Genetic Skin Disorders. 2nd ed., Oxford University Press, New York, 2010
-
Hennekam LR, Krantz ID, Allansonb IJ. Gorlin's Syndromes of the Head and Neck. Oxford University Press, Oxford, 2010
-
Cassidy S, Allanson J. Management of Genetic Syndromes. 3 ed., Wiley-Liss, Hoboken-New Jersey, 2010
-
Wang X-P, Fan J. Molecular genetics of supernumerary tooth formation. Genesis, 49:261–277, 2011
-
Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
-
Poulopoulos A, Kittas D, Sarigelou A. Current concepts on gingival fibromatosis-related syndromes. Journal of Investigative and Clinical Dentistry, 2:156–161, 2011
-
Bermejo-Sanchez E, Cuevas L, Amar E, et al. Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 157C: 288-304, 2011
-
Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: Understanding genetic and environmental influences. Nature Reviews Genetics, 12:167-178, 2011
-
Irvine AD, Hoeger PH, Yan AC. Harper's Textbook of Pediatric Dermatology, 3rd Edition , Wiley-Blackwell, Oxford, 2011
-
Pekka N, Morgan V, Fenwick A, Parmanen S et al. Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth. American Journal of Human Genetics, 89: 67-81, 2011
-
Perdu B, Mortier G, Vanhoenacker F, Van Hul W. Sclerosing Bone Dysplasias. 2nd edition, Elsevier, Amsterdam-New York, 2012
-
Luijsterburg AJM. Hands and Heads: Recording and classification of congenital anomalies of the upper limb and common oral clefts. Thesis. Department of Plastic, Reconstructive and Hand Surgery, Erasmus University, Rotterdam, 2013
-
Trainor PA, Andrews BT. Facial dysostoses: Etiology, pathogenesis and management. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 163C(4):283-294, 2013
-
Şıklar Z, Berberoğlu M. Syndromic Disorders with short stature. Journal of Clinical Research in Pediatric Endocrinology, 6(1), 1–8, 2014
-
Coffin CM, Davis JL, Borinstein SC. Syndrome-associated soft tissue tumours. Histopathology, 64:68–87, 2014
-
Koutlas IG. Syndromes affecting skin and mucosa. Atlas of the Oral & Maxillofacial Surgery Clinics of North America, 22(2):135-151, 2014
-
DeLuke DM, Haug RH. Syndromes of the Head and Neck. Elsevier, Philadelphia, 2014
-
Braddock SR, Lipinski RJ, Williams MS, Carey JC. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting. American Journal of Medical Genetics, 167A:1685–1740, 2015
-
Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015
-
Stevenson RE, Hall JG.(eds). Human Malformations and Related Anomalies. 3rd edition. Oxford University Press, Oxford-New York, 2015
-
Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519: 223-228, 2015
-
Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 9th edt., Elsevier Saunders, Philadelphia, 2015
-
Ahmed MK, Ye X, Taub PJ. Review of the genetic basis of jaw malformations. Journal of Pediatric Genetics, 5(4):209-219, 2016
-
Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics A, 170:2611–2616, 2016
-
Wang JC, Nagy L, Demke JC. Syndromic Craniosynostosis. Facial Plastic Surgery Clinics of North America, 24(4):531-543, 2016
-
Kaur Y, de Souza RJ, Gibson WT, Meyre D, A systematic review of genetic syndromes with obesity, Obesity Reviews, 18(6): 603-634, 2017
-
Pagon RA, Adam MP, Ardinger HH, et al.eds. “GeneReviews® (internet), Seattle (WA): University of Washington, Seattle, 1993-2017
PATOLOJİ
-
Tahsinoğlu M, Çöloğlu AS, Erseven G. Dişhekimleri için Genel Patoloji, Altın Matbaacılık, İstanbul, 1981
-
Kumar V, Abbas AK, Aster JC. Robbins and Cotran Pathologic Basis of Disease. 9th edt., Elsevier Saunders, Philadelphia, 2015
-
Coleman WB, Tsongalis GJ. Diagnostic Molecular Pathology, A Guide to Applied Molecular Testing. Elsevier Academic Press, Amsterdam, 2017
-
Goldblum JR, McKenney JK, Lamps LW, Myers JL. Rosai and Ackerman's Surgical Pathology. 11th edt., Elsevier, Philadelphia, 2018
-
Goljan EF. Rapid Review Pathology. 5th edt., Elsevier, Philadelphia, 2019
On-line kaynaklar
-
Online Mendelian Inheritance in Man: An Online Catalog of Human Genes and Genetic Disorders https://omim.org/
-
Gene Reviews https://www.ncbi.nlm.nih.gov/books/NBK1116/
-
National Center for Advancing Translational Sciences (NCATS) https://ncats.nih.gov/
-
Genetics Home Reference https://ghr.nlm.nih.gov/
-
FACES: The National Craniofacial Association http://www.faces-cranio.org/
-
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/
-
InTechOpen https://www.intechopen.com/
-
WebPath: Pathology images and text for medical education https://webpath.med.utah.edu/