Intermittent Muscular Weakness, Extrasystoles, and Multiple Developmental Anomalies

Summary A description is given of an eight‐year‐old boy with extrasystoles, seizures of muscular weakness, and multiple developmental anomalies (dwarfism, scaphocephalic skull, hypertelorism, bilateral ptosis, low‐set ears, broad nose, mandibular hypoplasia, aplasia of a number of teeth, defect of both the soft and osseous palate, inward bending of the fifth fingers, single transverse palmar crease of both hands, and cryptorchidism). These findings suggest a specific syndrome, but no similar description was found in the literature. The investigations disclosed no signs of either a chromosomal, a neuromuscular, or an endocrine disease.