A new Seckel-like syndrome of primordial dwarfism
1996; Wiley; Volume: 64; Issue: 3 Linguagem: Inglês
10.1002/(sici)1096-8628(19960823)64
ISSN1096-8628
AutoresMichael S. Buebel, Carlos F. Salinas, G. Shashidhar Pai, R I Macpherson, Margaret K. Greer, Adolfo Perez‐Comas,
Tópico(s)Otitis Media and Relapsing Polychondritis
ResumoSeckel 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. © 1996 Wiley-Liss, Inc.
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