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  • Title: Mulibrey nanism: three additional patients and a review of 39 patients.
    Author: Lapunzina P, Rodríguez JI, de Matteo E, Gracia R, Moreno F.
    Journal: Am J Med Genet; 1995 Jan 30; 55(3):349-55. PubMed ID: 7726235.
    Abstract:
    We report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.
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