A new Seckel-like syndrome of primordial dwarfism

Abstract

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well-established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel-like syndrome and suggests heterogeneity in this type of primordial dwarfism.