Abstract
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.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
