Shprintzen–Goldberg syndrome

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Shprintzen–Goldberg syndrome
Autosomal dominant - en.svg
Shprintzen–Goldberg syndrome is inherited in an autosomal dominant manner

Shprintzen–Goldberg syndrome is a multiple anomaly syndrome that has craniosynostosis, multiple abdominal hernias, cognitive impairment, and other skeletal malformations as key features. Several reports have linked the syndrome to a mutation in the FBN1 gene, but these cases do not resemble those initially described in the medical literature in 1982 by Shprintzen and Goldberg,[1] and Greally et al. in 1998 failed to find a causal link to FBN1.[2] At this time, the cause of Shprintzen–Goldberg syndrome remains uncertain. The syndrome is rare with fewer than 50 cases described in the medical literature to date.

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  1. ^ Shprintzen, RJ; Goldberg, R (1982). "A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias". Journal of Craniofacial Genetics and Developmental Biology. 2: 65–74. PMID 6182156. 
  2. ^ Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch, GF, Hanson JW (1998). "Shprintzen-Goldberg syndrome: a clinical analysis". American Journal of Medical Genetics. 76: 202–212. doi:10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S. 

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