Rhizomelia with anal atresia and anophthalmia: a new syndrome?
We report a newborn who presented with an unreported combination of anophthalmia, anal atresia, rhizomelia, dextrocardia and corpus callosum agenesis. Clinical and postmortem findings did not match any previously described syndromes with the type of anomalies seen in this patient. We suggested that this combination of congenital malformations might represent a new syndrome.
Departments of Pediatrics, Division of Genetics Pathology, Division of Genetics (DEU Genetic Diagnosis Center) Department of Pediatric Surgery, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.
Giray
G
Özlem
Bora
B
Elçin
Ulgenalp
U
Ayfer
Ateş
A
Oguz
Özer
Ö
Erdener
Erçal
E
Derya
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology*; D001006:Anus, Imperforate / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D010375:Pedigree; D013577:Syndrome