We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.

A 4-year follow-up study of 2 brothers affected by Schwartz-Jampel syndrome is reported. The children, aged 16 and 7 years, respectively, showed the clinical and electromyographical signs of the disorder. Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest in 3 other members of the same family. On the basis of our data, we suggest that inheritance of the Schwartz-Jampel syndrome may not only be recessive, as reported by most authors, but also dominant, with a different clinical expression.

Background: Due to its use of ionising radiation, the field of nuclear medicine is a unique and significant part of medical diagnostics and patient treatment. The aim of this study was to assess the internal exposure of nuclear medicine employees to radioiodine 131 I and technetium 99m Tc as well as to assess the external exposure doses. Material and Methods: The radioiodine 131 I and technetium

A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).

No abstract