Persistent truncus arteriosus communis with microphthalmos, orbital cyst and polydactyly.

A white woman, aged seventeen, was admitted to hospital in labour. Since the onset of menstruation at fifteen years only six or seven periods had occurred, and the last period could not be accurately dated. The personal and family history was uneventful. A female child was delivered by forceps after a lengthy first stage and cried spontaneously; she was apparently well nourished, was 30 cm. long and weighed 2,970 gm. (fig. 1). The lanugo was persistent and resembled that phase of distribution usually seen at the end of the eighth month. The orbits were sunken and the eyes were represented only by depressed slits 1 cm. in length with an interorbital distance of 3 cm. from one inner canthus to its fellow. Even with forcible retraction of the eyelids small eyeballs could barely be made out in the depths of the orbit. The ears were of the ' cauliflower ' type and presented marked Darwinian tubercles. The neck and trunk showed no abnormality and the uimbilical cord was normal. An accessory thumb was present on the right hand and the skiagram showed two phalanges therein, the web between the two thumbs being slightly distal to the level of the interphalangeal joints. The genitalia were normal and there was a well-marked sacral dimple. The child nursed poorly and the weight loss over the first four days was normal. During this period spells of rapid breathing and slight cyanosis were observed. The heart was found to be enlarged to the left and there was a loud systolic murmur best heard over the apical and pulmonic areas. The child became more cyanotic, the temperature rose to 101° F. and death occurred on the sixth day.