The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome

Abstract

A 20-year-old, black woman presented with primary amenorrhea. The patient was the product of an uncomplicated twin pregnancy. The parents were not consanguineous and were of average height. The proband had one sister and two brothers, all normal and of average stature. The sister reportedly had normal menstruation. The patient was short throughout her childhood. She graduated from high school but repeated the eleventh grade. She was 4 feet, 9 inches tall and weighed 98 pounds. Breasts and pubic hair were Tanner stage 5. Head circumference, arm span, and intercanthal distance were normal. The head and face were asymmetric. The right side of the head and face was smaller than the left, with the head tilted to the right (Fig. 1). The supraorbital ridges were flat, and palpebral fissures slanted upward. Both ears were small; the right ear was malformed and rudimentary. There was a small right auditory meatus, and the tympanic membrane could not be visualized. The thoracic cage was malformed as a result of severe scoliosis (Fig. 2). External genitalia were normal, but the vaginal orifice was absent and the uterus could not be felt on rectal examination. Neurological examination revealed limited extension of elbows and abduction of the arms (cubitus valgus) bilaterally. The hands and feet were normal except for hyperconvex fingernails. Every dermatoglyphic digital pattern was an ulnar loop, and both axial triradii were proximal.