[Seckel's syndrome: a form of chondrodysplasia? (author's transl)].
The true entity of Seckel's (bird headed dwarfism) has been hardly questioned due to the variety of malformations reported in these patients. However all cases reported have in common: dwarfism, bird head, microcephaly, mental retardation and malformations of different kinds. All these features must be present for the correct diagnosis. In two cases of Seckel's syndrome, full diagnostic features and post-mortem findings are reported. Special emphasis is made on the neuropathologic lesions. For the first time in the literature, changes in the epiphyseal tibial cartilage (with histochemical and EM studies) are described and correlated to dwarfism. Based on morphological data the authors propose Seckel syndrome as a condrodysplasia.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities; D001921:Brain / Q000473:pathology; D002356:Cartilage / Q000473:pathology; D004392:Dwarfism / Q000473:pathology*; D004838:Epiphyses / Q000473:pathology; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology; D010009:Osteochondrodysplasias / Q000473:pathology*; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities
Neuvos hallazgos en el síndrome de Seckel Su consideración como una condrodisplasia.