Male sexual differentiation involves a cascade of events initiated by the presence on the Y chromosome of the SRY gene, which causes the indifferent gonad to develop into a testis. Hormonal products of the testis, predominantly testosterone and Müllerian inhibiting substance (MIS), then control the
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by shortened and bowed long bones, airway instability, the potential for disorders of sexual differentiation (DSD), and Pierre Robin Sequence (PRS) with cleft palate, midface hypoplasia and laryngotrachemomalacia. CD is caused by