Alien-looking Skeleton From Chile Poses a Medical Mystery

By Jeanna Bryner, LiveScience

A teensy skeleton with a squashed alienlike head may have earthly origins — but the remains, found in Chile's Atacama Desert a decade ago, do make for quite a medical mystery.

Apparently when the mummified specimen was discovered, some speculated that it was an alien that had somehow landed on Earth, though the researchers involved never suggested this otherworldly origin.
Now, DNA and other tests suggest that the individual was a human and may have been 6 to 8 years of age when he or she died. Even so, the remains were just 6 inches (15 centimeters) long. [See Images of the Alien-Looking Human Remains]

"While the jury is out regarding the mutations that cause the deformity, and there is a real discrepancy in how we account for the apparent age of the bones … every nucleotide I've been able to look at is human," researcher Garry Nolan, professor of microbiology and immunology at the Stanford University School of Medicine, told LiveScience. "I've only scratched the surface in the analysis. But there is nothing that jumps out so far as to scream 'nonhuman.'"

Analyzing the tiny human
Nolan and his colleagues analyzed the specimen in the fall of 2012 with high-resolution photography, X-rays and computed tomography scans, as well as DNA sequencing. The researchers wanted to find out whether some rare disorder could explain the anomalous skeleton — for instance, it had just 10 ribs as opposed to 12 in a healthy human. They hoped to determine the age at which the organism died, as its size suggested a preterm fetus, a stillborn or a deformed child. They also thought the DNA would confirm whether it was human or perhaps a South American nonhuman primate.

The remains showed skull deformities and mild underdevelopment of the mid-face and jaw, the researchers found. The skull also showed signs of turricephaly, or high-head syndrome, a birth defect in which the top of the skull is cone-shaped.

The genome sequencing suggested that the creature was human, though 9 percent of the genes didn't match up with the reference human genome; the mismatches may be due to various factors, including degradation, artifacts from lab preparation of the specimen or insufficient data.

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