Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia

Stoll et al. (1974) reported father and son with this combination. The arms were severely involved, with absent thumbs and index fingers. The father had bilateral deformity of the pinnae, more marked on the left, with stenosis of the external auditory canal and deafness on that side. The philtrum was long and prominent. The sinus arrhythmia consisted of variable P-P intervals in the electrocardiogram without relationship to respiration. They found no report of this precise combination. Harding et al. (1982) described mother and daughter with radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity. The facial appearance of the mother suggested mild maxillary hypoplasia. The right thumb was absent and a flexion contracture of the index finger was present on the right. The changes on the left were more severe with dislocation of the shoulder, absence of the radius, and marked shortening and bowing of the ulna, as well as absence of the thumb and hypoplasia of the second ray. The daughter had similar facial features and a long philtrum. Her right pinna was primitively formed and she had bilateral mesomelic shortening of the arms with rudimentary or absent thumbs. On the left, the radius was absent; on the right, there was a total synostosis of the shortened radius and ulna. Harding et al. (1982) suggested that their patients had the same disorder as that in the father and son reported by Stoll et al. (1974).