A Critical Evaluation of the Down Syndrome Diagnosis for LB1, Type Specimen of Homo floresiensis.
The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004. These remains have been assigned to a new species, Homo floresiensis, with the partial skeleton LB1 as the type specimen. The Liang Bua hominins are notable for their short stature, small endocranial volume, and many features that appear phylogenetically primitive relative to modern humans, despite their late Pleistocene age. Recently, some workers suggested that the remains represent members of a small-bodied island population of modern Austro-Melanesian humans, with LB1 exhibiting clinical signs of Down syndrome. Many classic Down syndrome signs are soft tissue features that could not be assessed in skeletal remains. Moreover, a definitive diagnosis of Down syndrome can only be made by genetic analysis as the phenotypes associated with Down syndrome are variable. Most features that contribute to the Down syndrome phenotype are not restricted to Down syndrome but are seen in other chromosomal disorders and in the general population. Nevertheless, we re-evaluated the presence of those phenotypic features used to support this classification by comparing LB1 to samples of modern humans diagnosed with Down syndrome and euploid modern humans using comparative morphometric analyses. We present new data regarding neurocranial, brain, and symphyseal shape in Down syndrome, additional estimates of stature for LB1, and analyses of inter- and intralimb proportions. The presence of cranial sinuses is addressed using CT images of LB1. We found minimal congruence between the LB1 phenotype and clinical descriptions of Down syndrome. We present important differences between the phenotypes of LB1 and individuals with Down syndrome, and quantitative data that characterize LB1 as an outlier compared with Down syndrome and non-Down syndrome groups. Homo floresiensis remains a phenotypically unique, valid species with its roots in Plio-Pleistocene Homo taxa.
Department of Anatomy, Arizona College of Osteopathic Medicine, Midwestern University, 19555 N. 59th Avenue, Glendale, AZ, 85308, United States of America.
Karen L
KL
Baab
Bioanthropology, School of Archaeology & Anthropology, Australian National University, Acton, ACT, 2601, Australia.
Peter
P
Brown
Department of Anthropology, Florida State University, Tallahassee, FL, 32306-7772, United States of America.|School for Advanced Research, Santa Fe, NM, 87505, United States of America.
Dean
D
Falk
Department of Anthropology, Pennsylvania State University, University Park, PA, 16802, United States of America.
Joan T
JT
Richtsmeier
Department of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway, St. Louis, Missouri, 63110, United States of America.
Charles F
CF
Hildebolt
Department of Biomedical Informatics, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, United States of America.
Kirk
K
Smith
Department of Anatomical Sciences, School of Medicine, Stony Brook University, Stony Brook, NY, 11794-8081, United States of America.|Association Vahatra, BP 3972, Antananarivo 101, Madagascar.
William
W
Jungers
D000818:Animals; D004314:Down Syndrome / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology*; D015186:Hominidae / Q000002:abnormalities* / Q000145:classification; D007214:Indonesia; D010641:Phenotype