Up to three such children are born in the region per year.
The portal 72.ru reported that a married couple in the Tyumen Region had a child with dwarfism, citing data from the regional Department of Health. Anna Nikiforenko, chief specialist in medical genetics at the Department of Health of the region, told reporters that this is the first case of a baby being born with achondroplasia (dwarfism) this year. According to statistics, up to three children with this diagnosis are born in the region per year.
Nikiforenko noted that dwarfism in a child is diagnosed during examinations of a pregnant woman.
“When we see the manifestation of such a syndrome, we offer the parents an abortion. But there are cases when the mother and father themselves have this disease, and they decide to give birth. As a rule, such children are born in such families,” the geneticist shared.
Achondroplasia is a rare congenital disease caused by a mutation of the FGFR3 gene. In this case, the bones of the skeleton do not develop in length, and the body acquires a characteristic disproportion. The key symptom of the disease is a short stature of about 125-130 cm and short limbs.
It is believed that the occurrence of achondroplasia in the fetus is influenced by the presence of a mutated gene in the parents, as well as the age of the parents (primarily, the very mature age of the fathers), and oxygen starvation of the fetus in the last months of pregnancy or during childbirth. The mental and intellectual development of children with dwarfism is absolutely normal. In addition, achondroplasia can be successfully treated with surgery.
Earlier, the MedikForum.ru portal wrote about an unusual case of a child's birth in Vladivostok – the expectant mother was sure until the last moment that she was not pregnant.
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