What does gracile bones mean?

Gracile bones refer to changes in the skeleton in which the bones are more slender than usual (over-tubulated) and occasionally deformed in other ways such as being abnormally curved. This may occur in a number of disorders and can occur with or without fractures.

What causes gracile bones?

A number sign (#) is used with this entry because of evidence that gracile bone dysplasia (GCLEB) is caused by heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12. Autosomal dominant Kenny-Caffey syndrome (KCS2; 127000) is also caused by mutation in the FAM11A gene.

What is skeletal Robusticity?

Skeletal robusticity refers to the strength of a skeletal element relative to some mechanically relevant measure of body size, and is generally considered to reflect the magnitude of the mechanical loads that are habitually incurred by that element as the organism interacts with its environment.

What is Osteocraniostenosis?

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. Epidemiology.

Is osteogenesis imperfecta autosomal dominant?

Over 80 percent of the mutations that cause osteogenesis imperfecta are inherited in an autosomal dominant pattern. That means that an affected individual has only one copy of the mutated gene.

Are humans gracile or robust?

The postcranial skeleton of modern Homo sapiens is relatively gracile compared with other hominoids and earlier hominins. This gracility predisposes contemporary humans to osteoporosis and increased fracture risk.

What is a robust skull?

They are characterized by several features of the skull that give them a “robust” appearance when compared to other, more gracile hominins. The most notable of these features are large, thickly enameled, postcanine teeth that were supported by deep and broad mandibular corpora with tall and broad rami (Fig. 1).

How do you quantify skeletal Robusticity?

The most common methods of quantifying robusticity involve external diameters, or cross-sectional geometry. The data derived from these different methods are often used to address similar research questions, yet the compatibility of the resulting data has not been thoroughly tested.

Is Robusticity a word?

noun. Robustness, especially physical robustness of the body or a bodily structure.

Is osteogenesis imperfecta an autoimmune disease?

There are different types: Genetic disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Autoimmune disorders, such as lupus and scleroderma.