A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
AUTOR(ES)
Delatycki, M B
RESUMO
Twin brothers and their maternal uncle with a previously undescribed neonatal progeroid syndrome are presented. In addition to progeroid features, they had pseudo-obstruction of the urinary and gastrointestinal tracts, severe leucocytosis, liver dysfunction, and low complex III and IV in muscle but not in liver. Previously described neonatal progeroid syndromes and syndromes featuring pseudo-obstruction are discussed. The two most likely aetiological mechanisms are an X linked single gene disorder or a mitochondrial disorder. The evidence for these possibilities is presented.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050982Documentos Relacionados
- Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.
- A case of small-cell Sézary's syndrome with null-cell features.
- Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features.
- Primary Sjögren's syndrome with antibodies to HTLV-I: clinical and laboratory features.
- Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal