We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter-Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development.

Guazzi, G., Palmeri, S., Malandrini, A., Ciacci, G., Di Perri, R., Mancini, G., et al. (1994). Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS, 50(1), 79-83 [10.1002/ajmg.1320500117].

Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?

Guazzi, G.;Palmeri, S.;Malandrini, A.;
1994-01-01

Abstract

We describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter-Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development.
1994
Guazzi, G., Palmeri, S., Malandrini, A., Ciacci, G., Di Perri, R., Mancini, G., et al. (1994). Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome?. AMERICAN JOURNAL OF MEDICAL GENETICS, 50(1), 79-83 [10.1002/ajmg.1320500117].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/36790
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