Generalized Skeletal Malformations
Achondroplasia: Is the common form of dwarfism-(shortness of stature) primarily affecting the long bones. it is characterized by bowed and short limbs, short trunk, and an enlarged skull with a bulging forehead. Achondroplasia is inherited as an autosomal dominant.
Thanatophoric dysplasia: Is the most common type of lethal skeletal dysplasia. There are two types and both are autosomal dominant. Type I and II that are characterized by curved femurs and straight, relatively long femur respectively.
Acromegaly and Gigantism: These are conditions caused by congenital hyperpituitarism. Acromegaly is characterized by disproportional enlargement of the face, hands and feet; while in gigantism, there is excessive height and body proportion.
Cretinism: Is a condition characterized by growth retardation, skeletal abnormalities, auditory and neurologic disorders and mental deficiency. it is cause due to severe deficiency of fetal thyroid hormone. Agenesis of the thyroid gland also results in cretinism
Achondroplasia: Is the common form of dwarfism-(shortness of stature) primarily affecting the long bones. it is characterized by bowed and short limbs, short trunk, and an enlarged skull with a bulging forehead. Achondroplasia is inherited as an autosomal dominant.
Thanatophoric dysplasia: Is the most common type of lethal skeletal dysplasia. There are two types and both are autosomal dominant. Type I and II that are characterized by curved femurs and straight, relatively long femur respectively.
Acromegaly and Gigantism: These are conditions caused by congenital hyperpituitarism. Acromegaly is characterized by disproportional enlargement of the face, hands and feet; while in gigantism, there is excessive height and body proportion.
Cretinism: Is a condition characterized by growth retardation, skeletal abnormalities, auditory and neurologic disorders and mental deficiency. it is cause due to severe deficiency of fetal thyroid hormone. Agenesis of the thyroid gland also results in cretinism
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(Copyright © 2011 by U. Bala)