Kleeblattschadel (yonca yaprağı kranyum)

Kleeblattschadel (yonca yaprağı kranyum), kafatasında çok sayıda eklemin erken kapanması (kraniyosinstoz) sonucunda ortaya çıkan konjenital bir malformasyondur. Büyük bölümünün nedeni bilinmemektedir; bir bölümü sendroma özgüdür.^[1]^[2]^[3]^[4]^[5]^[6]

Kafatası üç yapraklı yonca gibi üç bölümlüdür. Kafatası arka çukuru kısadır. Hipertelorizm saptanır. Burun yayvandır. Göz kapaklarının düşüklüğü (ptozis) nedeniyle kornea ülserleri oluşur. Kulaklar çok aşağıdadır. Yüz kemikleri tam gelişememiştir (hipoplazi). Yüz üst bölümündeki venaları belirgindir. Ağız açıklığı büyüktür (makrostomi). Dil iridir (makroglossi).^[1]^[2]^[3]^[5]^[6]^[7]

Dudak yarığı, damak yarığı ve küçük dil yarığı (uvula bifida) saptanır. Çiğneme düzlemi bozukltur (maloklüzyon). Hidrosefali ve psikomotor gerilik ile bunlara özgü nörolojik bulgular vardır.^[1]^[2]^[3]^[5]^[6]^[7]

Yonca yaprağı kranyum saptanabilen sendromlar

Apert sendromu, Beare-Stevenson sendromu, Carpenter sendromu, Crouzon sendromu, COH sendromu, osteoglofonik displazi (osteoglophonic dysplasia), Pfeiffer sendromu tip 2, Saethre-Chotzen sendromu, Cumming sendromu, Shprintzen-Goldberg sendromu

Kaynakça

^ ^a ^b ^c Aksu F, Mietens C. Kleeblattschaedel syndrome. Klinische Padiatrie, 191: 418-428, 1979
^ ^a ^b ^c 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
^ ^a ^b ^c 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
^ Cohen, M M, Jr. Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. Journal of Craniofacial Surgery, 20 (suppl. 1): 652-656, 2009
^ ^a ^b ^c Tubbs RS, Sharma A, Griessenauer C, et al. Kleeblattschadel skull: a review of its history, diagnosis, associations, and treatment. Child's Nervous System, 29(5):745-748, 2013
^ ^a ^b ^c Dufresne CR, Jelks GW. Classification of Craniofacial Malformations. In: Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery (pp.1051-1072), (Black E, Nesi F, Calvano C, Gladstone G, Levine M, editors), 3rd edition, Springer, New York, 2012
^ ^a ^b Oostra RJ, van der Wolk S, Maas M, Hennekam RC. Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions. American Journal of Medical Genetics, 136A(4):327-342, 2005

[:0-1] Aksu F, Mietens C. Kleeblattschaedel syndrome. Klinische Padiatrie, 191: 418-428, 1979

[:1-2] 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

[:2-3] 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

[4] Cohen, M M, Jr. Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability. Journal of Craniofacial Surgery, 20 (suppl. 1): 652-656, 2009

[:3-5] Tubbs RS, Sharma A, Griessenauer C, et al. Kleeblattschadel skull: a review of its history, diagnosis, associations, and treatment. Child's Nervous System, 29(5):745-748, 2013

[:4-6] Dufresne CR, Jelks GW. Classification of Craniofacial Malformations. In: Smith and Nesi’s Ophthalmic Plastic and Reconstructive Surgery (pp.1051-1072), (Black E, Nesi F, Calvano C, Gladstone G, Levine M, editors), 3rd edition, Springer, New York, 2012

[:5-7] Oostra RJ, van der Wolk S, Maas M, Hennekam RC. Malformations of the axial skeleton in the museum Vrolik: II: craniosynostoses and suture-related conditions. American Journal of Medical Genetics, 136A(4):327-342, 2005

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