Home Print this page Email this page Users Online: 82
Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
CASE REPORT
Year : 2022  |  Volume : 10  |  Issue : 2  |  Page : 166-169

An extremely rare case of Bonneau syndrome with novel cardiac and eye manifestations


1 Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, UAE
2 Department of Pediatrics, Thumbay University Hospital, Ajman, UAE

Correspondence Address:
Elhadi Husein Aburawi
Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P. O. Box 17666, Al-Ain
UAE
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/sjmms.sjmms_122_21

Rights and Permissions

Bonneau or cardio-ducto-polysyndactyly syndrome is an extremely rare, life-threatening developmental defect, which has only been reported in eight patients previously. Here, we describe one such case of Bonneau syndrome in a newborn with additional novel manifestations. This late preterm (35 weeks of gestation) neonate born to parents of consanguineous marriage following a pregnancy complicated by polyhydramnios was symmetrically small for date at birth (<3rd centile for weight, length, and occipitofrontal circumference). She had the typical Bonneau syndrome features such as facial dysmorphism and polysyndactyly in addition to novel eye manifestations (microphthalmia, cataract, and vitreous hemorrhage) and cardiac defects such as D-transposition of the great arteries and pulmonary valve stenosis. The chromosomal study was normal (46, XX). The multiple congenital anomalies made the cardiac defects inoperable, and the patient died at the age of 16 days due to uncontrolled cardiac failure. A very high index of suspicion is required by pediatricians/neonatologists to identify this very rare syndrome based on presentation with known features.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1368    
    Printed49    
    Emailed0    
    PDF Downloaded131    
    Comments [Add]    

Recommend this journal