Clinical manifestation of a severe neonatal progeroid syndrome.
A girl with a progeroid appearance, with prominent occiput, blepharophimosis, cataract, arthrogryposis of the upper limbs and severe pulmonary stenosis is described. She died aged less than 6 months. An older sister was born 3 years before with the same appearance and underwent the same fatal evolution. The clinical appearance of this reported patient is compared to the previously published cases with severe neonatal progeroid syndromes.
Mégarbané
A
A
Medical Genetics Laboratory, Faculty of Medicine, Saint Joseph University, Paris, France. megarban@dm.net.lb
Loiselet
J
J
D003483:Cutis Laxa / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011371:Progeria / Q000150:complications / Q000235:genetics / Q000473:pathology*; D013577:Syndrome