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Carpenter sendromu (acrocephalopolysyndactyly)

Kalıtsal - AR

2 fenotip

 

Carpenter sendromu 1

Gelişme geriliği

Boyun kısa

Kraniyosinostozis (sagittal, lambdoid, coronal)

Güçlü olgularda “yonca yaprağı” kafatası

Brakisefali

Kranyum asimetrisi

Alın bombesi yüksek

Hipertelorizm

Gözler aşağı çekik

Mikrokornea ve kornea bulanıklığı

Optik atrofi

Burun kemeri yayvan

Kulaklar deforme

İşitme sorunları

Çene kemiklerinde hipoplazi

Yanaklar geniş

Çukur damak

Kalın alveol kreti

Natal dişler

Dentisyonda aksamalar

Kifoskolyoz

Eller ve parmaklar kısa

Parmak anomalileri (sindaktili, polidaktili, araknodaktili)

Konjenital kalp anomalileri (situs inversus, septum defektleri)

Karın duvarı zayıflığı (omfalosel)

Obezite

Ürogenital anomaliler

Psikoseksüel gelişme sorunları

Zeka geriliği

 

  • Kress W, Collmann H, Busse M, et al. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics & Cell Genetics,  91:134–137, 2000

  • Perlyn CA, Marsh JL. Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings. Plastic & Reconstrictive Surgery, 121(3):971-981, 2008

  • Alessandri JL, Dagoneau N, Laville JM, et al. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome. American Journal of Medical Genetics A, 152A(4):982-986, 2010

  • Jenkins D, Baynam G, De Catte L, et al. Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. Human Mutation, 32(4):E2069-E2078, 2011

  • Altunhan H, Annagur A, Ors R. The association of Carpenter syndrome and situs inversus totalis: first case report. Türkiye Klinikleri Turkish Journal of Medical Sciences, 31: 464-467, 2011

  • Haye D, Collet C, Sembely-Taveau C, et al. Prenatal findings in Carpenter syndrome and a novel mutation in RAB23. American Journal of Medical Genetics A, 164A: 2926-2930, 2014

  • Kadakia S, Helman SN, Healy NJ, et al. Carpenter syndrome: a review for the craniofacial surgeon. Journal ofCraniofacial Surgery, 25(5):1653-1657, 2014

 

Carpenter sendromu 2

Oral bulgular farklı

Yaygın diş çürükleri

Çukur damak

 

  • Altunhan H, Annagur A, Örs R. The association of Carpenter syndrome and situs inversus totalis: first case report. Türkiye Klinikler Journal of Medical Sciences, 31: 464-467, 2011

  • Twigg SRF, Lloyd D, Jenkins D, et al. Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. American Journal of Human Genetics, 91: 897-905, 2012