Abstract
A distinct dysmorphic dwarfing syndrome has been delineated from studies of a patient observed by the authors and from description of three other cases, previously published under different diagnostic labels. The syndrome combines characteristic congenital malformations, a distinct facies, cutis laxa and mental retardation with failure to thrive, severe growth retardation and a progressive skeletal hyperostosis. Marked elevation of alkaline phosphatase has been the only abnormal laboratory finding. Chromosome studies have been normal. Advanced paternal age suggests an autosomal dominant mutation as the cause.
In the author's case the evolution of the skeletal disorder has been documented by repeated radiographic surveys from soon after birth to age 5 years. The diagnosis of this syndrome can now be made in the neonatal period.
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Robinow, M., Johanson, A. & Smith, T. A NEWLY DEFINED HYPEROSTOTIC DWARFING SYNDROME. Pediatr Res 11, 462 (1977). https://doi.org/10.1203/00006450-197704000-00556
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DOI: https://doi.org/10.1203/00006450-197704000-00556
