
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
Gardner sendromu
Familial adenomatous polyposis 1
Kalıtsal - AD
Familial adenomatöz polipozis sendromunun 3 fenotipinden biri (ötekiler: Brain tumor-polyposis syndrome 2, familial adenomatous polyposis)
Multipl osteomalar: çeneler, frontal, zigomatik, etmoid ve sfenoid kemiklerde
Deride erozyon (yüz, gövde, ekstremite)
Çene tümörleri: odontomalar, osteoid osteoma, benign osteoblastoma
Süpernümerer dişler
Mesiodens
Gömük dişler
Yaygın çürükler
Gözde retina kalınlaşması
Abdominal/ekstraabdominal desmoid oluşumlar
Fibromlar (Gardner fibromaları)
Mezenterde mezenkimal tümörler (lipoma, fibroma, fibrosarkoma)
Kalın bağırsak polipleri ve kanserleşmeleri
Adrenal tümörleri
Tiroid tümörleri
Beyin tümörleri
-
Chan MY, Shifteh K, Shanske AL. Mesiodens, a new microform of Holoprosencephaly? American Journal of Medical Genetics, 149A:268–271, 2009
-
Oliveira MR, Rodrigues WC, Gabrielli MF, et al. Gardner syndrome with unusual maxillofacial manifestation. Journal of Craniofacial Surgery, 27(5):1253-1255, 2016
-
Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016
-
Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. Imaging Science in Dentistry, 46(4):267-272, 2016
-
Li J, Woods SL, Healey S, et al. Point mutations in exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant. American Journal of Human Genetics,98: 830-842, 2016
-
Seehra J, Patel S, Bryant C. Gardner's Syndrome revisited: a clinical case and overview of the literature. Journal of Orthodontics, 43(1):59-64, 2016
-
Argyris PP, Koutlas IG. Orthokeratinized odontogenic cyst with an associated keratocystic odontogenic tumor component and ghost cell keratinization and calcifications in a patient with Gardner Syndrome. Head & Neck Pathology, 11(2):240-248, 2017