Lethal progeroid syndrome with osteolysis. Case report.
A particular progeroid syndrome with severe acro-osteolysis, cutaneous changes, failure to thrive, and early death is described in a young boy. Progeria and mandibulo-acral dysplasia are discussed, but early death is unusual in these two syndromes. This observation raises the question of a large spectrum including all of these syndromes.
Le Merrer
M
M
U12, Unité de Recherches INSERM sur les Handicaps Génétiques de l'Enfant, Hôpital des Enfants-Malades, Paris, France.
Guillot
M
M
Briard
M L
ML
Maroteaux
P
P
D006801:Humans; D007223:Infant; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D010014:Osteolysis; D010641:Phenotype; D011371:Progeria; D011379:Prognosis; D013577:Syndrome