Seckel-like syndrome in three siblings

Seckel syndrome has been described as the prototype of the primordial bird- headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic cranio facial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous system s. This pleiotropy has implied genetic heterogeneity and prompted reviews o f preciously reported cases of Seckel syndrome. As a result, the characteri stic diagnostic features of Seckel syndrome have been highly debated. Altho ugh deletions in chromosome 2q have been described, to date, no genetic def ect has been defined. We report three cases of Seckel-like syndrome in sibl ings from nonconsanguinous Caucasian parents. In addition to the typical Se ckel phenotypic features, all three cases were characterized by severe hydr ocephalus. We review the Literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrat e a wide range of phenotypic features.