Identification of Four Families with Autosomal-Recessive JSRD
(A) Pedigrees of the four families included in this study showing the consanguineous relationship between parents (asterisks denote individuals whose DNA was available for analysis).
(B–D) Representative MRI images for the affected individuals 17DG0722, 12DG2038, and MTI-2230 showing a range from nearly absent to classical MTS.
(E and F) Facial and hand photos of the affected individual 12DG0596 showing midline notch in the upper lip (Forme Fruste cleft lip; classic of OFD syndrome) and mesoaxial polydactyly.
(G) Hand X-ray of the affected individual 12DG0596 showing the typical Y-shaped metacarpal of OFD VI.