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Achondrogenesis

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Short long bone

One or more abnormally short long bone.

Total: 1

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PMID (PMCID)
18386808	MIXED_SAMPLE	Adult
	Specific ultrasonographic features of perinatal lethal hypophosphatasia.
	Zankl A, Mornet E, Wong S. Am J Med Genet A. 2008;146A(9):1200-4.
	Prenatal diagnosis of perinatal lethal hypophosphatasia (PL-HPH) by ultrasonography is difficult as PL-HPH must be differentiated from other skeletal dysplasias with short long bones and poor mineralization of the skeleton, such as osteogenesis imperfecta type II and achondrogenesis/hypochondrogenesis.