Other features
The adult patient (with the non-recurrent variant) had cryptorchidism and was consulted for ambiguous genitalia as a newborn. The young female patient (with the recurrent variant) had congenital stridor due to laryngo – trachea-bronchomalacia that improved with time and without the need for tracheostomy. Feeding problems are managed by PEG. Both patients showed excessive keloid scarring.