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Its name Thanatophoros, means "death-bearing" in Greek. Euthanasia, "good death" in Greek, is the act or practice of ending the life of an individual who would otherwise experience severe, incurable suffering or disability. It typically involves lethal injection or the suspension of extraordinary medical treatment.
It can be associated with missense mutations in fibroblast growth factor receptor-3.It is inherited in an autosomal dominant manner. [2] [3]While the condition can be inherited, most cases of thanatophoric dysplasia are caused by new mutations in people with no family history of the disorder.
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth.They may include aneuploidies, structural abnormalities, or neoplasms.
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See also M John Macadam, Scottish-Australian chemist – Macadamia. Ernst Mach, Czech-Austrian physicist – Mach number. Karel Hynek Mácha, Czech novelist and poet – Lake Mácha, in the Czech Republic Niccolò Machiavelli, Italian politician and writer – Machiavellianism. John Macdonald, New Zealand psychologist – Macdonald triad. Charles Macintosh, Scottish inventor – mackintosh ...
Simplification on the mutation 46 XX 4q16.3 (female), 46XY 4q16.3 (male). Gain of function mutations in this gene can develop dysfunctional proteins "impede cartilage growth and development and affect chondrocyte proliferation and calcification" [6] which can lead to craniosynostosis and multiple types of skeletal dysplasia (osteochondrodysplasia).
Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births. [1] Also known by the name Langer-Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen.
Achondroplasia in children is the most common form of dwarfism; it accounts for about 70% of all cases of dwarfism. [1] Achondroplasia falls into the category of “disproportionate dwarfism”.