Pseudotrisomy 13 syndrome: a case with left ventricular hypoplasia and duodenal stenosis.
We report a case of a female child born at 32 weeks of gestation. Birth weight was 1200 g (<3rd centile), length 40 cm (10th-50th centile) and head circumference 23.5 cm (<3rd centile). Clinical examination revealed microcephaly, hypotelorism, microphthalmia, a flat rudimentary nose with a single nasal cavity, high palate, thick dysplastic low-set ears, a short neck, postaxial polydactyly of the upper limbs, and single palmar creases. Investigations showed alobar holoprosencephaly, absence of the third ventricle and midline structures of the brain, microphthalmia, hypotelorism, left ventricular hypoplasia, a large atrial septal defect, and duodenal stenosis. The karyotype was 46,XX. A hypoplastic left ventricle and duodenal stenosis have not been previously reported in pseudotrisomy 13 and this case might aid in the further delineation of this syndrome.
Ahmet
Dursun
D
Departments of Medical Genetics Pediatrics Cardiology Pediatric surgery, ZKU Medical Faculty, Zonguldak, Turkey.
Bahri
Ermis
E
Mustafa
Aydin
A
Varim
Numanoglu
N
Tunc
Tuncer
T
D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics / Q000473:pathology*; D004378:Duodenal Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D018636:Hypoplastic Left Heart Syndrome / Q000150:complications / Q000235:genetics / Q000473:pathology*; D007231:Infant, Newborn; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*