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Clinical manifestation of a severe neonatal progeroid syndrome
Author(s) -
Mégarbané André,
Loiselet Jacques
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02453.x
Subject(s) - blepharophimosis , medicine , arthrogryposis , progeria , pulmonic stenosis , pediatrics , surgery , stenosis , biology , genetics , ptosis , gene
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.