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Cleft palate in spondyloepiphyseal dysplasia congenita: case reports
1Division of Plastic and Reconstructive Surgery, Shizuoka Children's Hospital, Shizuoka, Japan. yuna9ryu@dk9.so-net.ne.jp
Insights
Spondyloepiphyseal dysplasia congenita (SEDC) frequently involves cleft palate. This study highlights that submucous cleft palate may be more common in SEDC patients than previously thought, suggesting similar treatment approaches to isolated cleft palate.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- Spondyloepiphyseal dysplasia congenita (SEDC) is a rare genetic disorder affecting bone and cartilage development.
- Cleft palate is a recognized, yet under-documented, feature associated with SEDC.
- Limited clinical data exists regarding the prevalence and characteristics of cleft palate in SEDC patients.
Observation:
- This study reports on four patients diagnosed with both SEDC and cleft palate.
- The cohort included two patients with overt cleft palate and two with submucous cleft palate.
- Clinical observations focused on the presentation and management of palatal anomalies within the SEDC context.
Findings:
- The findings indicate that submucous cleft palate might be more prevalent in individuals with SEDC than previously assumed.
- The study suggests that SEDC-associated cleft palate warrants treatment strategies comparable to those for non-syndromic cleft palate.
- Overt and submucous cleft palates present distinct clinical challenges within the SEDC spectrum.
Implications:
- These findings necessitate increased clinical awareness of palatal anomalies, particularly submucous cleft palate, in SEDC diagnoses.
- Standardized treatment protocols for cleft palate can be applied to SEDC patients, simplifying management pathways.
- Further research is warranted to elucidate the genetic and developmental links between SEDC and cleft palate formation.
Abstract:
Cleft palate is one of the common features of spondyloepiphyseal dysplasia congenita (SEDC). However, there are few clinical data about cleft palate in SEDC. We report four patients with cleft palate and SEDC including two with overt cleft palate and two with submucous cleft palate. Our results suggested that SEDC associated with cleft palate should be treated in the same way as solitary cleft palate, and submucous cleft palate may be more common in patients with SEDC than previously appreciated.