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Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
- Source :
- American journal of medical genetics. Part A. (5)
- Publication Year :
- 2015
-
Abstract
- Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.
- Subjects :
- 0301 basic medicine
Male
Microcephaly
Pathology
medicine.medical_specialty
Adolescent
Micrognathism
Ribs
Scoliosis
030105 genetics & heredity
snRNP Core Proteins
03 medical and health sciences
Intellectual Disability
Genetics
medicine
Humans
Abnormalities, Multiple
Craniofacial
Child
Genetics (clinical)
Rib cage
Respiratory distress
business.industry
Hyoid bone
Horseshoe kidney
Infant
Exons
medicine.disease
Cleft Palate
030104 developmental biology
Child, Preschool
Mutation
Pierre Robin syndrome
Spliceosomes
Female
business
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....465c058f504125f803d4c1187f7f0419