A new case of neonatal progeroid syndrome with agenesis of corpus callosum.
We report on a female infant with a history of severe intrauterine and postnatal growth retardation, pseudohydrocephaloid cranium, frontal bossing, widened fontanelles, prominent scalp veins, progeroid face, entropion, beaked nose, small mouth, generalized lipodystrophy, camptodactyly and hypoplasia of lower limb muscles, suggesting the diagnosis of neonatal progeroid syndrome (NPS). In addition, she had congenital hip dysplasia and agenesis of corpus callosum. It is the first Hungarian case with neonatal progeroid syndrome.
Abdel-Salam
G M
GM
Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary.
Czeizel
A E
AE
D000015:Abnormalities, Multiple / Q000235:genetics; D061085:Agenesis of Corpus Callosum; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000235:genetics; D011371:Progeria / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome