Mulibrey nanism

Mulibrey nanism

Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver,...

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Veröffentlicht in:Clinical dysmorphology 1995-01, Vol.4 (1), p.63-69
Hauptverfasser: Balg, S, Stengel-Rutkowski, S, Döhlemann, C, Boergen, K
Format: Artikel
Sprache:eng
Schlagworte:
Child, Preschool
Dwarfism - diagnosis
Dwarfism - genetics
Dwarfism - pathology
Eye Abnormalities - genetics
Face - abnormalities
Humans
Male
Pericarditis, Constrictive - genetics
Phenotype
Syndrome
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Beschreibung
Zusammenfassung:Investigation of a 4-year-old boy with 'Russell-Silver-phenotype' led to the relatively rare diagnosis of Mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).
ISSN:0962-8827
DOI:10.1097/00019605-199501000-00009