title: Mulibrey nanism: three additional patients and a review of 39 patients.
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.
authors.affiliation: Department of Pediatrics, Hospital de Niños de Buenos Aires, Argentina.
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: J I
authors.initials: JI
authors.lastname: Rodríguez
authors.forename: E
authors.initials: E
authors.lastname: de Matteo
authors.forename: R
authors.initials: R
authors.lastname: Gracia
authors.forename: F
authors.initials: F
authors.lastname: Moreno
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005808:Genes, Recessive; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010494:Pericarditis, Constrictive / Q000235:genetics*; D012658:Sella Turcica / Q000002:abnormalities*; D013577:Syndrome