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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

Figure 2

Tooth phenotype of ERS patients. (A, B) Oral and radiograph view show intra pulpal calcification and absence of enamel (C) H&E staining of a sagittal section from an extracted deciduous molar. (D) Magnified boxed area from C showing intra-pulpal calcification (black arrow). (E) Magnified view of the surface of the tooth presented in C showing a sparse thin hypoplastic enamel layer. (F) Sagittal section of a deciduous molar observed via optical microscopy (zoom ×840). Note normal tubular dentine, columnar arrangements close to the dentine indicating enamel rods contrasting with a generally disorganized enamel surface. Note the abnormal dentino-enamel junction which is less scalloped than normal (dashed line). (G) Magnified view of the area in F with scanning electron microscopy (zoom ×900). Note absence of normal enamel rod architecture and increased porosity in the enamel. (H) Magnified view of box in F (zoom ×10,000). e: enamel, d: dentin, p: dental pulp, DEJ: Dentin-enamel junction (dashed line).

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