[Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome].
The authors report the case of two siblings with a MU.LI.BR.EY syndrome. This acronym standing for a singular type of recessive autosomal intra-uterine dwarfism, insufficiently points to the role of pericardial constriction. The main symptoms and the prognosis of the disease are related to pericardial damages. The relevance of the diagnosis lies in the possibilities offered by pericardectomy.
Cotton
J B
JB
Service de pédiatrie, Centre hospitalier de Valence, France.
Rebelle
C
C
Bosio
A
A
Ladreyt-Ponchon
J P
JP
Maillet
J
J
D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010494:Pericarditis, Constrictive / Q000150:complications*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome
Nanisme intra-utérin familial avec péricardite constrictive, syndrome MU.LI.BR.EY.