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  • Title: A new Seckel-like syndrome of primordial dwarfism.
    Author: Buebel MS, Salinas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A.
    Journal: Am J Med Genet; 1996 Aug 23; 64(3):447-52. PubMed ID: 8862620.
    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.
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