Abstract |
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).
|
Authors | S Balg, S Stengel-Rutkowski, C Döhlemann, K Boergen |
Journal | Clinical dysmorphology
(Clin Dysmorphol)
Vol. 4
Issue 1
Pg. 63-9
(Jan 1995)
ISSN: 0962-8827 [Print] England |
PMID | 7735507
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Child, Preschool
- Dwarfism
(diagnosis, genetics, pathology)
- Eye Abnormalities
(genetics)
- Face
(abnormalities)
- Humans
- Male
- Pericarditis, Constrictive
(genetics)
- Phenotype
- Syndrome
|