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Amelogenesis imperfecta

A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

Short femoral neck

An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

Total: 1

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PMID (PMCID)
16770799	MIXED_SAMPLE	Adult
	A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement.
	Megarbane A, Ghanem I, Waked N, Dagher F. Am J Med Genet A. 2006;140(14):1491-6.
	In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads.