Journal of Pediatric and Adolescent Gynecology
Volume 20, Issue 5 , Pages 305-308 , October 2007

Perrault Syndrome with Marfanoid Habitus in Two Siblings

  • Jubbin J. Jacob, MD

      Affiliations

    • Department of Endocrinology, Christian Medical College and Hospital, Vellore, India
    • Corresponding Author InformationAddress correspondence to: Jubbin J. Jacob, Department of Endocrinology, Christian Medical College, Vellore, Tamil Nadu, India 632004
    • ,
  • Thomas V. Paul, MD, DNB

      Affiliations

    • Department of Endocrinology, Christian Medical College and Hospital, Vellore, India
    • ,
  • Suma S. Mathews, MS

      Affiliations

    • Department of ENT, Christian Medical College and Hospital, Vellore, India
    • ,
  • Nihal Thomas, MD, DNB, FRACP

      Affiliations

    • Department of Endocrinology, Christian Medical College and Hospital, Vellore, India

References 

  1. Perrault M, Klotz B, Housset E. Deux cas de syndrome de Turner avec surdi-mutite dans une même fratrie. [French] Bull Mem SOC Med H6p Paris. 1951;16:79;[French]
  2. Pallister PD, Opitz JM. The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet. 1979;4:239
  3. Nishi Y, Hamamoto K, Kajiyama M, et al. The Perrault syndrome: clinical report and review. Am J Med Genet. 1988;31:623
  4. Cruz OL, Pedalini ME, Caropreso CA. Sensorineural hearing loss associated to gonadal dysgenesis in sisters: Perrault's syndrome. Am J Otol. 1992;13:82
  5. Gottschalk ME, Coker SB, Fox LA. Neurologic anomalies of Perrault syndrome. Am J Med Genet. 1996;65:274
  6. Linssen WH, Van den Bent MJ, Brunner HG, et al. Deafness, sensory neuropathy, and ovarian dysgenesis: a new syndrome or a broader spectrum of Perrault syndrome?. Am J Med Genet. 1994;51:81
  7. Fiumara A, Sorge G, Toscano A, et al. Perrault syndrome: evidence for progressive nervous system involvement. Am J Med Genet. 2004;128A:246
  8. Bosze P, Skripeczky K, Gaal M, et al. Perrault's syndrome in two sisters. Am J Med Genet. 1983;16:237
  9. Lipovich L, Opitz JM, Morrow J, et al. HNBCoi, a novel Naþ/HCO3 cotransporter in the 5q region linked to ovarian dysgenesis and sensory neural deafness (Perrault syndrome). Am J Hum Genet. 1999;65A:476

PII: S1083-3188(06)00340-8

doi: 10.1016/j.jpag.2006.11.007

Journal of Pediatric and Adolescent Gynecology
Volume 20, Issue 5 , Pages 305-308 , October 2007

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