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.
Özlem
Giray
G
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.
Elçin
Bora
B
Ayfer
Ulgenalp
U
Oguz
Ateş
A
Erdener
Özer
Ö
Derya
Erçal
E
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