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Median cleft lip without holoprosencephaly. Case report
K G van der Wal1, J Wiebe Mulder
1Department of Oral and Maxillofacial Surgery, Medisch Centrum Leeuwarden, The Netherlands.
International Journal of Oral and Maxillofacial Surgery
|February 1, 1993
Summary
This case report details a neonate with median cleft lip but no holoprosencephaly. It highlights that normal head circumference and normotelorism can rule out brain malformations in such cases.
Area of Science:
- Medical Case Reports
- Neonatal Medicine
- Clinical Genetics
Background:
- Median cleft lip is a rare congenital anomaly.
- Median cleft lip is often associated with holoprosencephaly and microcephaly.
- Maternal diabetes mellitus increases the risk of holoprosencephaly in infants.
Observation:
- A neonate presented with a median cleft lip.
- Cranial MRI ruled out holoprosencephaly.
- The neonate's head circumference was within normal limits, and normotelorism was present.
Findings:
- The absence of holoprosencephaly was confirmed despite the median cleft lip.
- The mother developed overt diabetes mellitus postpartum.
- A potential link between a prediabetic state and a forme fruste of holoprosencephaly affecting only the face is suggested.
Implications:
- This case underscores the importance of thorough neuroimaging in neonates with median cleft lip.
- It suggests that facial anomalies alone may represent a forme fruste of holoprosencephaly.
- Further research is warranted to explore the relationship between maternal metabolic states and craniofacial development.