Seckel's syndrome: a case report.
The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical examination was carried out on the 44 cases of Seckel's syndrome described in the literature. Only 19 of these cases appear to be comparable with Seckel's description, while the others are dubious, due to incomplete data. Some can be identified as ordinary cases of dwarfism with microcephaly or mental deficit. Until more precise and objective parameters are established, it would be advisable to refer to this particular form of dwarfism as "Virchow-Seckel type dwarf-headed dwarfism," in order to avoid using the more binding term "syndrome" and the misleading term "bird-headed."
Di Blasi
S
S
Department of Internal Medicine, University of Palermo Medical School, Italy.
Belvedere
M
M
Pintacuda
S
S
Di Blasi
U
U
Ferotti
N
N
Galante
S
S
Galante
D
D
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D003025:Clubfoot / Q000000981:diagnostic imaging*; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging* / Q000378:metabolism; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008607:Intellectual Disability; D008831:Microcephaly / Q000000981:diagnostic imaging*; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging*