Unusual clinical history of a male infant with Edwards syndrome.
Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.
Surányi
Andrea
A
Department of Obstetrics and Gynaecology, University of Szeged, Szeged 6725, Semmelweis u. 1. 438, Szeged, Hungary.
Bitó
Tamás
T
Vajda
György
G
Kaiser
László
L
Gáspár
Gábor
G
Katona
Márta
M
Szabó
János
J
Pál
Attila
A
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014314:Trisomy