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Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence
Bryan K Wilcox1, Sherard A Tatum
1Department of Otolaryngology and Community Sciences, State University of New York Upstate Medical University, Syracuse 13210, USA.
American Journal of Otolaryngology
|July 9, 2004
Summary
Cerebro-costo-mandibular syndrome, a rare disorder, typically shows recessive inheritance. This study details a rare father-to-son autosomal dominant transmission, highlighting the Pierre Robin sequence in management.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Cerebro-costo-mandibular syndrome (CCMS) is a rare genetic disorder.
- It presents with psychomotor retardation, rib defects, and Pierre Robin sequence.
- Most CCMS cases are sporadic or autosomal recessive.
Observation:
- This report describes a rare instance of autosomal dominant inheritance of CCMS.
- The transmission occurred from father to son.
- This represents the seventh documented case of dominant CCMS transmission.
Findings:
- The study confirms autosomal dominant inheritance as a possible, though rare, mode of transmission for CCMS.
- Associated Pierre Robin sequence findings, inheritance patterns, and outcomes were reviewed.
- This review aids in managing patients with CCMS and related conditions.
Implications:
- Understanding diverse inheritance patterns is crucial for genetic counseling in CCMS.
- Early identification and management of Pierre Robin sequence are vital for affected individuals.
- This case expands the known genetic variability of Cerebro-costo-mandibular syndrome.