A new Seckel-like syndrome of primordial dwarfism

✍ Scribed by Buebel, Michael S.; Salinas, Carlos F.; Pai, G. Shashidhar; Macpherson, Roderick I.; Greer, Margaret K.; Perez-Comas, Adolfo

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 622 KB
• Volume: 64
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19960823)64:3<447::aid-ajmg1>3.0.co;2-m

✦ Synopsis

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.