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Raine dysplasia: a Brazilian case with a mild radiological involvement
A X Acosta1, L C Peres, L C Chimelli
1Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil.
Insights
This study describes a preterm infant with features resembling Raine dysplasia but with milder bone abnormalities. The findings suggest a potential allelic mutation in the Raine gene, possibly inherited recessively.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Developmental Biology
Background:
- Raine syndrome is a severe skeletal dysplasia characterized by craniofacial abnormalities and bone fragility.
- Genetic mutations, particularly in the 'gene' (Raine gene), are implicated in Raine syndrome.
- Autosomal recessive inheritance is suspected in some cases, especially with consanguineous parents.
Observation:
- A preterm infant presented with significant craniofacial disproportion, microcephaly, arthrogryposis, and dysmorphic features.
- Postmortem examination revealed hypoplastic lungs.
- Radiological studies showed mild, localized bone density increases and undermodeling of long bones, differing from typical Raine syndrome.
Findings:
- The observed phenotype shares characteristics with Raine dysplasia but exhibits milder skeletal involvement.
- Absence of prenatal fractures and localized bone sclerosis were noted.
- The consanguinity of the parents supports a hypothesis of autosomal recessive inheritance.
Implications:
- This case may represent an allelic mutation of the Raine gene, expanding the known spectrum of Raine dysplasia.
- Further research into Raine gene allelic variants is warranted.
- Understanding milder presentations can aid in diagnosing and counseling families with suspected skeletal dysplasias.
Abstract:
We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.