Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence

Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance....

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Bibliographic Details
Published in:American journal of otolaryngology 2004-07, Vol.25 (4), p.258-262
Main Authors: Wilcox, Bryan K, Tatum, Sherard A
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Airway management
Biological and medical sciences
Brain damage
Diagnosis, Differential
Fetal alcohol syndrome
Hearing loss
Humans
Infant, Newborn
Intervention
Male
Mandible - abnormalities
Medical sciences
Microcephaly - diagnosis
Micrognathism - diagnosis
Micrognathism - embryology
Mortality
Ostomy
Otolaryngology
Otorhinolaryngology. Stomatology
Pierre Robin Syndrome - diagnosis
Ribs - abnormalities
Syndrome
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Summary:Cerebro-costo-mandibular syndrome is a rare disorder characterized by psychomotor retardation, posterior rib-gap defects, and the orofacial defects of Pierre Robin sequence. Most cases are sporadic, but several familial cases have been reported, many of which support autosomal recessive inheritance. We present a case of autosomal dominant inheritance from father to son; the seventh known case of dominant transmission. We also review the findings, inheritance pattern, and outcomes of Pierre Robin sequence that are useful in managing affected patients.
ISSN:0196-0709
1532-818X
DOI:10.1016/j.amjoto.2003.10.005