A Turkish doctor has recently discovered a rare genetic disease that targets the skeletal system and may shed light on the negative impacts of consanguineous marriages on the genetic structure.
According to research conducted by Dr. Osman Demirhan of Çukurova University Faculty of Medicine, the newly discovered homozygous mutation in the gene caused damage to the skeletal system.
Demirhan’s syndrome, named after the doctor, also causes disorders related to the reproductive organs.
“The incidence of rare skeletal diseases has been reported to be approximately one in 5,000 cases. However, the incidence of skeletal diseases in our country, where consanguineous marriages are common, is estimated to be much higher than reported in the literature,” Demirhan said in a written statement. The study was based on a 16-year-old girl from a family in which consanguineous marriages are common.
The young woman had “a serious deformity in her arms and legs that consisted of folds of the fingers, lack of development of the fibula bone, severe contractures of the fingers, loss of joints in the hands and fusion of the bones of the wrist and ankle. ”, he explained.
The study also found that the girl’s “ovaries failed to develop and she had an underdeveloped uterus. Endocrinological findings revealed that her ovaries were not producing enough hormones or reproductive cells,” Demirhan added.
The doctor also said that the patient’s parents, her uncle’s children and two of her four siblings are carriers of the defective genes.
“We are proud to have discovered an important disease as part of the rare diseases in the field of genetics and to have introduced it to medical science and literature as ‘Demirhan syndrome’.”
Demirhan syndrome in Mexico
Social networks viralized a video from Tamaulipas with a woman who was named in a local legend as the “Dog Girl”. However, the case would be a Demirhan Syndrome.
It is worth mentioning that it was in 2009 when they saw this minor for the first time. There, the media assured that the little girl’s mother prevented her from leaving her house. However, everything remained as a legend of the place.
It was until the last hours when the case became relevant, because once again it was captured by the cameras of a home. There, the female runs and walks on all fours, which caused an impact on social networks.
Demirhan syndrome, possible reason for the existence of “Dog Girl” in Tamaulipas
As we mentioned above, this syndrome was discovered by the physiologists Uner Tan and Osmar Demirhan. They discovered a person who has the anatomy of a human, although there is a problem in the brain that causes quadrupedism.
In addition, they realized that this condition is accompanied by a mental retardation that starts from the cerebellum. By not developing in the way it should, there is a failure in the balance of people and the motor system atrophies.
The alleged presence of the “Niña Perro” is captured in closed-circuit cameras in the neighborhood of the National Unity Extension of #CdMadero #Tamaulipas pic.twitter.com/tp4p6FHmnW
– Uncle Mau from Tampico (@ElTioMau_dTam) July 10, 2020
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