What is tonatophoric dysplasia?

Thanatopric dysplasia is a fatal skeletal abnormality that is considered a dwarf variant. Dysplasia is a term that describes the presence of developmental abnormality. The term Thanatophoric is a Greek word that means "bringing death" and refers to the fact that this condition is always fatal. An infant with tanatopric dysplasia usually dies within a few hours of birth. This genetic disorder occurs in the same number in male and female children, at the speed of approximately one in 20,000 to 50,000 birth. However, it is not a hereditary disorder and the parent cannot have this condition and give it directly to the child. Instead, there is a mutation that causes this condition known as de new mutation, which means it occurs spontaneously during sperm or egg production. Mutation in the FGFR3 gene leads to non -functional bone growth, causing characteristic poleabnormalities of growth. These include severely shortened limbs, narrow strain, protruding abdomen and condition called macrocephaly in which the head of most isí í than usual. The child is also much smaller than normal, with an average length of approximately 16 inches (40 cm). In addition, hypotonia or generalized muscle weakness of children born with this disorder is.

Before birth, certain features of this disorder can be observed after ultrasound examination of the fetus. Lack of growth, especially limbs; macrocephalies; ticked femura; narrow chest cavity; And shortened ribs can be seen on ultrasound when the fetus is influenced by Thanotoric dysplasia. Despite the characteristic appearance of these symptoms, it is often difficult to convincingly diagnose ultrasonemsamný.

children who were born with this disorder cannot survive without extensive and aggressive inpatient medical care. Most of these children have a significant respiratory anxiety at birth and must be admitted to an intensive neonatal unit for intubation and monitoring. Depending on the needs of the child couldBeing medicines used to alleviate health conditions that arise from dysplasia. In cases where parents do not want to adhere to aggressive treatment, the child is fed and maintained comfortably until it survives.

Even with aggressive treatment, however, it is rare to live for a child with this disorder more than a few hours after birth. In a rare event that the child will survive, it is accepted for a unit of long -term care, because for a longer period of time, institutional care is required before the child can be taken home. Complications such as severe developmental delays, growth delay and seizures are probably in children who survive neonatal periods. A child who survives the newborn period can live a year or two before succumbing to fatal respiratory complications.