Dwarfism with short, bowed, rigid limbs and characteristic facies
Boomerang dysplasia has an autosomal dominant pattern of inheritance.
Specialty
Medical genetics
Boomerang dysplasia is a lethal form of osteochondrodysplasia[1] known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang.[2] Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.[1]
Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.
^ abBicknell LS, Morgan T, Bonife L, Wessels MW, Bialer MG, Willems PJ, Cohen DH, Krakow D, Robertson SP (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet. 42 (7): e43. doi:10.1136/jmg.2004.029967. PMC 1736093. PMID 15994868.
^Wessels MW, Den Hollander NS, Dekrijger RR, Bonife L, Superti-Furga A, Nikkels PG, Willems PJ (2003). "Prenatal diagnosis of boomerang dysplasia". Am J Med Genet A. 122 (2): 148–154. doi:10.1002/ajmg.a.20239. PMID 12955767. S2CID 42013969.
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