Shprintzen–Goldberg syndrome

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,[2] and Greally et al. in 1998 failed to find a causal link to FBN1.[3] 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.

Shprintzen–Goldberg syndrome
Other namesMarfanoid craniosynostosis syndrome[1]
Autosomal dominant - en.svg
Shprintzen–Goldberg syndrome is inherited in an autosomal dominant manner

See alsoEdit

ReferencesEdit

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Shprintzen Goldberg syndrome". www.orpha.net. Retrieved 22 October 2019.
  2. ^ 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 (1): 65–74. PMID 6182156.
  3. ^ 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 (3): 202–212. doi:10.1002/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S. PMID 9508238.

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Classification
External resources