Figure_1.tif (4.06 MB)
Patient phenotype.
figure
posted on 2013-02-20, 06:17 authored by Julia Zimmer, Sandra C. Doelken, Denise Horn, Jay C. Groppe, Eileen M. Shore, Frederick S. Kaplan, Petra SeemannX-rays of the patients hands (A) were taken before the operation, at the age of 4 months, showing the unilateral atypical BDB-like phenotype. Photographs of hands (B) and feet (C) were taken after the surgical correction, at the age of 22 months. Note that the middle phalanx of the 3rd left toe was removed and implanted as the middle phalanx of the 3rd finger of the right hand in order to stabilize the digit and improve functionality. The pedigree (D) shows the patient carrying the heterozygous change p.G92E in NOG which he inherited from the healthy father.
