Related Experiment Video
Updated: Aug 23, 2026
Method of Studying Palatal Fusion using Static Organ Culture
Published on: September 19, 2015
Bilateral cleft lip and palate, hypertelorism and hypoplastic toes
1Clinical Genetics Unit, Helsinki University Central Hospital, Helsinki, Finland Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland The Family Federation of Finland, Helsinki, Finland.
Insights
This case study describes a rare congenital condition in a young boy with distinct facial and toe abnormalities. The findings suggest a potential link between maternal medication use during early pregnancy and the observed developmental anomalies.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Congenital anomalies present a significant challenge in pediatrics.
- Understanding the etiology of rare genetic syndromes is crucial for diagnosis and management.
Observation:
- A 23-month-old male presented with bilateral cleft lip and palate, hypertelorism, and frontal bossing.
- Severe bilateral, asymmetric hypoplasia of the toes was also noted.
- Maternal use of bisoprolol, naproxen, and sumatriptan for migraines occurred until the fifth week of gestation.
Findings:
- The patient exhibits a unique constellation of craniofacial and limb malformations.
- This presentation may represent a previously undocumented congenital disorder.
- The role of specific prenatal medication exposure requires further investigation.
Implications:
- This case highlights the importance of detailed phenotyping in rare pediatric conditions.
- Further research is needed to elucidate the etiology and potential teratogenic effects.
- Recognition of this potential new entity could aid in future diagnostic efforts.
Abstract:
We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features represent a previously undescribed entity of as yet unknown aetiology.
