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.