A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.
Am J Med Genet A
; 161A(9): 2291-3, 2013 Sep.
Article
in En
| MEDLINE
| ID: mdl-23873869
ABSTRACT
Toriello-Carey syndrome is rare condition characterized by agenesis of the corpus callosum, the Pierre Robin sequence, and facial anomalies such as telecanthus, short palpebral fissures, and a small nose with anteverted nares [Toriello and Carey, 1988]. In addition, tracheal and laryngeal anomalies are common complications in patients with Toriello-Carey syndrome, and these anomalies can lead to death [Kataoka et al., 2003]. Congenital tracheal stenosis is a life-threatening condition with high mortality. Even if surgery is successful, several serious complications can result in a high risk of mortality. We describe a case of a Japanese boy with Toriello-Carey syndrome who had severe congenital tracheal stenosis, in whom surgical tracheal plasty was avoided because of adequate respiratory care, allowing the patient to be alive at 18 months of age.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pierre Robin Syndrome
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Trachea
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Urogenital Abnormalities
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Limb Deformities, Congenital
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Constriction, Pathologic
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Craniofacial Abnormalities
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Agenesis of Corpus Callosum
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Heart Defects, Congenital
Limits:
Humans
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Infant
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Male
/
Newborn
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2013
Document type:
Article
Affiliation country: