Aglossia-adactylia sendromu

Hypoglossia-hypodactylia sendromu

Kesin nedeni bilinmiyor (gebelik sorunları, alkol, diabet)

Oromandibular-limb hipogenezi grubundan

Yüz çizgileri keskin

Yanaklar çökük

Sublingnal ve submandibular tükürük bezleri büyük

Ağız açıklığı küçük (mikrostomi)

Altçene hipoplazisi (mikrognati/retrognati)

Altçene orta kesiciler agenezisi

Dil hipoplazisi/agenezisi

Parmak anomalileri (eksiklik ya da sindaktili)

Tırnaklarda hipoplazi

Situs inversus

Bkz Hanhart sendromu

 

• Lecannellier J, Vischer D. The aglossia-adactylia syndrome. Helvetica Paediatrica Acta, 31(1):77-84, 1976

• Robinow M, Marsh JL, Edgerton MT, et al. Discordance in monozygotic twins for aglossia-adactylia, and possible clues to the pathogenesis of the syndrome. Birth Defects Original Article Series,14(6A):223-230, 1978

• De Smet L, Schollen W. Hypoglossia-hypodactyly syndrome: report of 2 patients. Genetic Counseling, 12(4):347-352, 2001

• Doğan DG, Doğan M, Aslan M, et al. Hanhart syndrome. Genetic Counseling, 21(4):359-362, 2010

• Seven M, Yosunkaya E, Güven G, Yüksel A. The very rare aglossia adactylia syndrome with a novel finding of mental retardation. Genetic Counseling, 23(1): 81-85, 2012

• Jung O, Smeets R, Hanken H, et al. A patient with Charlie M Syndrome: Differential diagnosis of oromandibular limb hypogenesis syndromes. Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czech Republic, 160(2):310-315, 2016

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