We realized last week that in all of our posts so far, we have mentioned and talked about Leah's diagnosis and given brief descriptions of it, but have not given much information or resources to find out more about it. The resources we have found and even the counseling we have received about Thanatophoric Dysplasia has all pretty much been the same. Since TD is a lethal condition that only has a few survivors, there is little information out there and what is there is repeated.
Here is a basic description of Thanatophoric Dysplasia - adapted from eMedicine.com from WebMD:
http://emedicine.medscape.com/article/949591-overview
"Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which means "death bringing" or "death bearing." Thanatophoric dysplasia is divided into 2 subtypes: thanatophoric dysplasia type I (TDI) and type II (TDII). The subtypes of TD are defined by the curved or straight appearance of the long bones. TDI, the more common subtype, is characterized by a normal-shaped skull and curved long bones (shaped like a telephone receiver); the femurs are most affected. TDII is associated with a cloverleaf-shaped skull and straight femurs."
"TDI and TDII are caused by an autosomal dominant mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Normally, FGFR3 is a negative regulator of bone growth. In the United States, Thanatophoric dysplasia has an incidence of 1 per 20,000-50,000 births. Newborns with thanatophoric dysplasia are stillborn or die shortly after birth. Death in the neonatal period is due to severe respiratory insufficiency from reduced thoracic capacity and hypoplastic lungs or respiratory failure due to brainstem compression. Very rare reports of survival into early childhood have been cited. Males and females are equally affected."
Ways to manage Thanatophoric Dysplasia if long-term survival is anticipated- adapted from http://www.orpha.net/data/patho/GB/uk-Thanatophoric-dysplasia.pdf
- orthopedic evaluation upon the development of joint contractures or joint hypermobility
Other links to resources about Thanatophoric Dysplasia:
Genetics Home Reference
National Center for Biotechnology Information
Here is a basic description of Thanatophoric Dysplasia - adapted from eMedicine.com from WebMD:
http://emedicine.medscape.com/article/949591-overview
"Thanatophoric dysplasia (TD) is the most common form of skeletal dysplasia that is lethal in the neonatal period. The term, thanatophoric, derives from the Greek word thanatophorus, which means "death bringing" or "death bearing." Thanatophoric dysplasia is divided into 2 subtypes: thanatophoric dysplasia type I (TDI) and type II (TDII). The subtypes of TD are defined by the curved or straight appearance of the long bones. TDI, the more common subtype, is characterized by a normal-shaped skull and curved long bones (shaped like a telephone receiver); the femurs are most affected. TDII is associated with a cloverleaf-shaped skull and straight femurs."
"TDI and TDII are caused by an autosomal dominant mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. Normally, FGFR3 is a negative regulator of bone growth. In the United States, Thanatophoric dysplasia has an incidence of 1 per 20,000-50,000 births. Newborns with thanatophoric dysplasia are stillborn or die shortly after birth. Death in the neonatal period is due to severe respiratory insufficiency from reduced thoracic capacity and hypoplastic lungs or respiratory failure due to brainstem compression. Very rare reports of survival into early childhood have been cited. Males and females are equally affected."
Ways to manage Thanatophoric Dysplasia if long-term survival is anticipated- adapted from http://www.orpha.net/data/patho/GB/uk-Thanatophoric-dysplasia.pdf
- orthopedic evaluation upon the development of joint contractures or joint hypermobility
In the rare cases of long-term survival, the management consists in treatment of manifestations:
- respiratory support (tracheostomy, ventilation)
- medication to control seizures
- shunt placement when hydrocephaly is identified
- suboccipital decompression for relief of craniocervical junction constriction
- hearing aids when hearing loss is identified
Other links to resources about Thanatophoric Dysplasia:
Genetics Home Reference
National Center for Biotechnology Information
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