A rare patient with a false median cleft lip associated with multiple congenital anomalies
1Department of Dermatology (Section of Plastic and Reconstructive Surgery), Ehime University School of Medicine, Japan.
Insights
This case study details a unique congenital disorder involving a false median cleft lip and severe brain abnormalities. Surgical intervention improved the patient's facial appearance and social acceptance.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- The case presents a rare instance of a female patient with a complex congenital anomaly.
- This involved a false median cleft lip, hypertelorism, anophthalmos, hydranencephaly with holoprosencephaly, and osteogenesis imperfecta.
- Such a combination of disorders is exceptionally uncommon in medical literature.
Observation:
- The patient survived to age 11, primarily sustained by milk products.
- Surgical closure of the false median cleft lip was performed for aesthetic and social reasons.
- The patient exhibited unique median cerebrofacial dysgenesis.
Findings:
- The surgical outcome aimed to enhance facial aesthetics and social integration.
- The patient's condition presented a unique constellation of congenital anomalies.
- The embryological differences between false and true median cleft lips were examined.
Implications:
- This case highlights the importance of considering rare genetic syndromes in clinical practice.
- It underscores the potential for surgical intervention in improving quality of life for patients with severe congenital defects.
- Further research into the embryogenesis of craniofacial malformations is warranted.
Abstract:
A girl manifesting a false median cleft lip associated with hypertelorism, anophthalmos, hydranencephaly with holoprosencephaly, and osteogenesis imperfecta, among other disorders, survived and was fed mainly milk products up to the age of 11. Then, surgical closure of the false median cleft lip was undertaken to improve the face aesthetically and to make the child more acceptable to society at large. The patient's median cerebrofacial dysgenesis with other anomalies was unique, compared with disorders reported in the literature. The embryological distinction between a false and true median cleft lip is also discussed.
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