Overlapping Holoprosencephaly-polydactyl syndrome and Asphyxiating thoracic dystrophy, an incidental finding in prenatal ultrasound screening: A rare case report
Case report
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This case report describes a rare prenatal ultrasound finding of overlapping Holoprosencephaly-polydactyl syndrome and Asphyxiating thoracic dystrophy in a fetus at 37 weeks gestation.
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Abstract
An obstetric ultrasound of a multi-gravid mother at 37-week of gestation showed a female fetus with alobar holoprosencephaly, polydactyly, short ribs, narrow chest and short upper and lower extremity bones, consistent with Holoprosencephaly-polydactyly syndrome and Asphyxiating thoracic dystrophy overlap. Apgar score was 0 in the first and fifth minutes.
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00