Weaver's syndrome--primordial excessive growth velocity. A case report.
We report on a black child with the Weaver syndrome of primordial overgrowth, the seventh and largest case thereof yet recorded. His birth weight was 10 200 g and he has continued to grow at an excessive velocity. At the age of 14 months his weight was 30 kg, his height 105 cm and his radiological bone age between 6 and 7 years. Other features which conform to previous reports are a peculiar face with a long philtrum, protuberant lower lip, relative micrognathia, large dysplastic ears, excessive loose skin folds around the scalp, neck and trunk, large hands with camptodactyly, varus deformities of the feet and a hoarse, low-pitched voice. A significant feature in this patient is lumbar kyphosis due to hypoplasia of the second and third lumbar vertebrae. Biochemical and endocrinological tests did not reveal an abnormality.
D005149:Facial Expression; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D007738:Kyphosis; D008159:Lumbar Vertebrae; D008297:Male; D013577:Syndrome