International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access
Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc
Journal website http://www.theijcp.org

Case Report

Volume 6, Number 1-2, June 2017, pages 28-32


A Patient With Focal Dermal Hypoplasia Syndrome and Renal Involvement due to a Novel Mutation in the PORCN Gene

Figures

Figure 1.
Figure 1. (a) Sparse hair, facial asymmetry, hypotrichotic eye brushes, left microphthalmia, dysplastic and anteverted helix; (b, c) oligodontia, small teeth, and enamel abnormalities; (d) umbilical hernia, hypoplastic left labium majora; (e-h) split left hand, note brittle nail on second right finger, and modified palmar creases; (i) note patchy atrophic and pigmented skin; (j) hypoplastic and brittle nails on toes, second toes laterally deviated.
Figure 2.
Figure 2. (a) Left skull asymmetry. (b) Thorax with no osseous abnormalities, apparently asymmetric thorax. (c) Asymmetry of lower extremities. Hypoplasia of distal epiphyseal nuclei on left limb was noted and modified metaphysis in left tibia and fibula, slender long bones, with thin cortical diaphysis, and wide metaphysis. Note osteopathia striata. (d) Rectified femoral necks. (e, f) Split right hand, asymmetric ossification of metacarpal bones (four nuclei on right side, and two nuclei on left side; 11 months old) and reduced bone density.