A syndrome of large birth size, accelerated growth and skeletal maturation, associated with limb, craniofacial, neurological, and other abnormalities. Craniofacial anomalies consist of a broad forehead, flat occiput, large ears, hypertelorism, long philtrum, and relative micrognathia. Limb abnormalities include prominent finger pads, camptodactyly, broad thumbs, thin and deep-set nails, clinodactyly, limited elbow and knee extension, wide distal long bones, and foot deformities (clubfoot, pes calcaneovalgus, and metatarsus adductus). Hypertonia, hypotonia, psychomotor retardation, and hoarse, low-pitched voice, excess loose skin, umbilical and inguinal hernia, and inverted nipples are associated. The aetiology is unknown.
- D. D. Weaver, C. B. Graham, I. T. Thomas, D. W. Smith:
A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.
Journal of Pediatrics, St. Louis, 1974, 84: 547-552.