View phenotype #0000000198

Individual ID 00000194
Associated disease AI unclassified
Phenotype details All affected reported to have kinky/curly hair as infants, no unaffected subjects had kinky or curly hair. Marked osseous changes radiographically compared with the unaffected. Affected subjects
also exhibited obliteration of diploe and a
complete lack of visible mastoid pneumatisation.
Osseous changes evident in proband, they were
much more pronounced in mother. Proband had teeth with small clinical crowns and thin enamel. Radiographically, taurodontism was present in all the molars. Previously reported by Lichtenstein et al. 1972, PMID:5054226.
Inheritance Familial, autosomal dominant
Owner name Claire Smith