Sindrome ADULT o Sindrome di Propping-Zemes OMIM 103285

Sindrome ADULT o Sindrome di Propping-Zemes OMIM 103285

La Sindrome ADULT, acronimo di Acro-Dermato-Ungual-Lacrimal-Tooth, รจ una sindrome rara (14 casi) a trasmissione autosomica dominante caratterizzata da ectrodattilia, eccesso di efelidi, onicodisplasia, ostruzione dei dotti lacrimali, ipodonzia e/o perdita precoce dei denti permanenti.


Bibliografia

www.orphanet.net

Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K. ADULT syndrome allelic to limb mammary syndrome (LMS). Am. J. Med. Genet. 90: 179-182, 2000.

Propping, P., Zerres, K. ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia. Am. J. Med. Genet. 45: 642-648, 1993.

Reisler, T. T., Patton, M. A., Meagher, P. P. J. Further phenotypic and genetic variation in ADULT syndrome. Am. J. Med. Genet. 140A: 2495-2500, 2006.

Slavotinek, A. M., Tanaka, J., Winder, A., Vargervik, K., Haggstrom, A., Bamshad, M. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. Am. J. Med. Genet. 138A: 146-149, 2005.

Valenzise, M., Arrigo, T., De Luca, F., et al.  R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. (Letter) Europ. J. Med. Genet. 51: 497-500, 2008.

van Zelst-Stams, W. A. G., van Steensel, M. A. M. A novel TP63 mutation in a family with ADULT syndrome presenting with eczema and hypothelia. (Letter) Am. J. Med. Genet. 149A: 1558-1560, 2009. [


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