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The Wolf-Hirschhorn syndrome in fetuses
G Tachdjian1, C Fondacci, S Tapia
1Laboratoire de Biologie du Développement et de la Reproduction, Hôpital Robert Debré, Paris, France.
Clinical Genetics
|December 1, 1992
Summary
Prenatal diagnosis of Wolf-Hirschhorn syndrome (monosomy 4p) is rare but possible in fetuses with severe intrauterine growth retardation (IUGR). Early ultrasound and karyotyping are crucial for identifying this condition and its associated anomalies.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Fetal Medicine
Background:
- Wolf-Hirschhorn syndrome (WHS), characterized by partial deletion of chromosome 4p, is rarely diagnosed prenatally.
- This study investigates five cases of fetal monosomy 4p.
Observation:
- Fetuses presented with severe intrauterine growth retardation (IUGR) detected via ultrasound.
- Common findings included typical craniofacial dysmorphism, major renal hypoplasia, and midline fusion defects.
- Associated anomalies such as cleft lip/palate and diaphragmatic hernia were noted in some cases.
Findings:
- Karyotyping revealed breakpoints within the 4p16, 4p15, or 4p14 bands.
- The deletion was de novo in four cases and due to paternal translocation in one.
- Delayed bone age and hypotrophic placentae were consistently observed.
Implications:
- Emphasizes the importance of karyotyping fetuses with IUGR, particularly with normal amniotic fluid.
- Suggests that specific ultrasound findings may allow for in utero recognition of WHS phenotype.
- Highlights the need for comprehensive prenatal evaluation in cases of suspected chromosomal abnormalities.