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Congenital monostotic fibrous dysplasia--a new possibly autosomal recessive disorder
Insights
Congenital monostotic fibrous dysplasia, a rare bone disorder, was diagnosed in two siblings. This marks the first reported instance of this condition occurring together in siblings.
Area of Science:
- Oral and Maxillofacial Surgery
- Pediatric Dentistry
- Genetics
Background:
- Fibrous dysplasia is a rare bone disorder where normal bone is replaced by fibrous tissue.
- Monostotic fibrous dysplasia affects a single bone, and congenital cases are exceptionally rare.
- Congenital lesions present at birth, posing diagnostic challenges in infants.
Observation:
- Two siblings, a male infant (3 months) and a female infant (12 days), presented with anterior mandibular bony lesions.
- These lesions were noted at birth, indicating a congenital origin.
- Clinical, radiographic, laboratory, and histologic evaluations were performed.
Findings:
- A diagnosis of congenital monostotic fibrous dysplasia was established for both infants.
- No similar cases of this condition in siblings were found in the literature.
- The absence of consanguinity suggests a potential new autosomal-recessive genetic disorder.
Implications:
- These cases represent the first documented occurrence of congenital monostotic fibrous dysplasia in siblings.
- The findings suggest a possible genetic etiology, potentially a novel autosomal-recessive disorder.
- Further research is warranted to understand the genetic basis and long-term implications of this rare condition.
Abstract:
Two siblings, a 3-month-old white male infant and a 12-day-old female infant, had an anterior mandibular bony lesion that, in both cases, had been present at birth. After evaluation of clinical, physical, radiographic, laboratory, and histologic findings, a diagnosis of congenital monostotic fibrous dysplasia was made. Thorough review of the literature on fibrous dysplasia yielded no similar cases. The two cases presented appear to be the first reported examples of congenital monostotic fibrous dysplasia in siblings. The parents said there was no consanguinity. The possibility of a new autosomal-recessive disorder is likely.