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
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Zunich J, Esterly NB, Kaye CI. Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Archives of Dermatology, 124: 1188-1189, 1988
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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
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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
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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
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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
Ritscher-Schinzel sendromu
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Ritscher-Schinzel sendromu 1
Cranio-cerebello-cardiac sendrom (3C)
Kalıtsal - AR
Gelişme geriliği (büyüme hormone eksikliği)
Düşük kulaklar
Hipertelorizm
Gözlerde koloboma
Çekik gözler
Basık burun sırtı
Çıkıntılı artkafa
Mikrognati
Damak yarığı
Kardiyovasküler bulgular: Fallot tetralojisi, septum defektleri, sol kalp hipoplazisi, kapak anomalileri (stenozlar)
Beyinde Dandy-Walker malformasyonu
Hipotoni
Hidronefroz
Sindaktili
Adrenal hipoplazisi
Psikomotor gerilik
Göbek kordonunda tek arter
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Ritscher-Schinzel sendromu 2
Kalıtsal - XLR
Gelişme geriliği
Makrokranyum
Ense kalın
Geniş alın
Hipertelorizm
Filtrum kısa
Makroglossi
Kalpte septum defektleri
Beyinde Dandy-Walker malformasyonu
Hipotoni
Psikomotor gerilik
Parmak anomalileri
Skolyoz
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Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. American Journal of Medical Genetics, 87: 61-64, 1999
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Leonardi ML, Shashidhar Pai G, Wilkes B, Robert Roger Lebel RR. Ritscher-Schinzel Cranio-Cerebello-Cardiac (3C) Syndrome: Report of Four New Cases and Review. American Journal of Medical Genetics, 102:237-242, 2001
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Craft E, Wildig CE, Crow YJ. 3C syndrome (Letter) American Journal of Medical Genetics, 152A: 1026-1027, 2010
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Seidahmed MZ, Alkuraya FS, Shaheed M, et al. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. Americam Journal of Medical Genetics A, 155A: 1393-1397, 2011
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Voineagu I, Huang L, Winden K, et al. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability (Letter). Molecular Psychiatry, 17: 4-7, 2012
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Elliott AM, Simard L., Coghlan G, et al. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. Journal of Medical Genetics, 50: 819-822, 2013
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Kolanczyk M, Krawitz P, Hecht J, et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics, 23: 633-638, 2015 (Erratum: European Journal of Human Genetics, 23: 720, 2015