Treviño-Alanís MG, González-Cantú AJ, García-Flores JB, Rivera-Silva G

Language: Spanish
References: 5
Page: 123-124
PDF size: 1511.91 Kb.

ABSTRACT

The Karsch-Neugebauer or ectrodactyly syndrome is an autosomal dominant condition with variable expressivity and particularly affects the extremities; furthermore, presents ocular disorders; abnormalities of lacrimal duct and teeth; lip and/or cleft palate. Associated with several SHFM loci.

REFERENCES

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2. 2.- Crackower MA, Scherer SW, Rommens JM, et al. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum Mol Genet 1996;5:571-9.

3. 3.- Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker PF. Refinement of the deletion in 7q21.3 associated with Split hand /foot malformation type 1 and Mondini dysplasia. J. Med Genet 2004;41: e54.

4. 4.- Wilkie AO, Goodacre TE. Patterson-Stevenson-Fonatinesíndrome: 30-year follow-up and clinical details of a further affected case. Am J MedGenet 1997;69:433-4.

5. 5.- Slavotinek AM, 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 MedGenet A 2005;138ª:146-9.