Juberg-Hayward sendromu

Juberg-Hayward sendromu (Orocraniodigital sendrom), otosomal resesif yolla aktarılan, ender görülen, kalıtsal bir sendromdur.[1][2] Malpuech sendromu ve Juberg-Hayward sendromu ile çakışmalar görülmektedir.[3] Genel bir gelişme geriliği ve mikrosefali saptanır. Gözler birbirlerinden uzaktır (hipertelorizm) ve göz kapak düşmesi izlenir (ptosis). Ağız içi incelemede, yarık dudak ve yarık damak belirlenir.[1][2] Başparmak ve topuk kemiği anomalileri ile radius başı deformasyonu saptanır. Atnalı böbrek görülebilir. Zeka geriliği vardır.[1][2]

Dudak yarığı

Kaynakça

Silengo M, Tornetta L. Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clinical Dysmorphology, 9: 127-129, 2000
Hedera P, Innis JW. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. American Journal of Medical Genetics A, 122A: 257-260, 2003
Reardon W, Hall CM, Gorman W. An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. Clinical Dysmorphology, 10: 123-128, 2001

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[:0-1] Silengo M, Tornetta L. Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clinical Dysmorphology, 9: 127-129, 2000

[:1-2] Hedera P, Innis JW. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. American Journal of Medical Genetics A, 122A: 257-260, 2003

[3] Reardon W, Hall CM, Gorman W. An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. Clinical Dysmorphology, 10: 123-128, 2001