Osteogenesis imperfecta: an atypical association

Snehal Mallakmir, Keya Lahiri, Pallavi Gahlowt

Abstract


Osteogenesis Imperfecta (OI) also known as ‘brittle bone disease’, is a clinically heterogeneous connective tissue disorder with defect in type I collagen. The more prevalent autosomal dominant forms of OI are caused by primary defects in type I collagen, while autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Few cases of OI associated with atypical features have been reported. We report a case of 54 days male child of OI associated with pyloric stenosis. The case probably is a form of autosomal recessive OI with severe phenotype.


Keywords


Osteogenesis imperfecta, Pyloric stenosis, Infant

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References


Byers PH. Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, et al., eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill Medical Publishing Division; 2001: 5253-5262.

Mckusick VA. Pyloric stenosis, infantile hypertrophic. IHPS3 (OMIM - Online mendelian inheritance in man, OMIM %612017), 2014. Available at: http://www.omim.org/search?index=entry&sort=score+desc%2C+prefix_sort+desc&start=1&limit=10&search=612017. Accessed 7 July 2014.

Rohrbach M, Giunta C. Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. Am J Med Genet C Semin Med Genet. 2012 Aug;160C(3):175-89.

Crooks J. Two unusual examples of osteogenesis imperfecta. Br Med J. 1932;1:705.

Tizard JPM. Osteogenesis imperfect presenting with delay in walking (two cases). Proc R Soc Med. 1949 Feb;42(2):80-3.

Højgaard AD, Bach LF. Recurrent secondary stomach ulcer in a boy 3 months of age with osteogenesis imperfect. Ugeskr Laeger. 1989 Sep;151(39):2520-1.

Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, Alrasheed S, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfect. Am J Hum Genet. 2010 Mar;86(3):389-98.

Carter CO, Evans KA. Inheritance of congenital pyloric stenosis. J Med Genet. 1969;6:233-54.