Mulibrey nanism: Three additional patients and a review of 39 patients |
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Authors: | Pablo Lapunzina,Jos Ignacio Rodrí guez,Elena de Matteo,Ricardo Gracia,Felipe Moreno |
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Affiliation: | Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York |
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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 lifethreatening 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. © 1995 Wiley-Liss, Inc. |
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Keywords: | Mulibrey nanism Perheentupa syndrome pericardial constriction GH deficiency clinical review |
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