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Harlequin fetus and micromelia.
A Charles1, R Moulinasse, L Versailles
1Department of Obstetrics and Gynaecology, Clinique Notre Dame, Tournai, Belgium.
Prenatal Diagnosis
|October 1, 1989
Summary
A rare case of global micromelia, a significant shortening of long bones, was observed in a fetus starting at 23 weeks gestation. This condition, presenting as a harlequin fetus at birth, may represent a novel aspect of the fetal akinesia sequence.
Area of Science:
- Perinatology
- Medical Genetics
- Fetal Medicine
Background:
- Pregnancy complicated by fetal long bone shortening detected via ultrasound at 23 weeks.
- Premature delivery at 34 weeks gestation for a fetus with significant micromelia.
Observation:
- Newborn presented with the distinct physical characteristics of a harlequin fetus.
- Absence of dwarfism, with micromelia confirmed clinically and radiologically.
Findings:
- Global micromelia, a rare condition of shortened long bones, was diagnosed in utero.
- This specific presentation of global micromelia has not been previously described or observed during pregnancy.
Implications:
- Suggests a potential new phenotype within the fetal akinesia sequence.
- Highlights the importance of detailed prenatal ultrasound for identifying rare skeletal dysplasias.
- Contributes to the understanding of congenital disorders affecting fetal skeletal development.