Document Detail


Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure.
MedLine Citation:
PMID:  19368978     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To report two cases of cleft palate lateral synechia (CPLS) syndrome in a single family and describe surgical closure using the synechia. STUDY DESIGN: Case report and literature review. METHODS: A case report is presented with a review of the literature of cleft palate in conjunction with lateral synechia. Clinical presentation with photographic images of surgical repair is presented as well as a genetic workup with pedigree. RESULTS: A 6-week-old male presented for evaluation of a cleft palate. Mucosa-lined, fibromuscular tissue bands were noted connecting the floor of mouth and the free edges of a bilateral complete secondary cleft palate. No other craniofacial, digital, genital or limb defects were noted. The patient's 13-month-old sister had similar synechial bands and cleft palate at birth. Another older sibling had cleft palate without synechia. The patient's mother and maternal great grandmother had cleft palates at birth without synechia. The three children share a common mother but have three different fathers. Genetic analysis failed to reveal chromosomal defects or a mutation in the interferon regulatory factor 6 (IRF6) gene, a locus linked to Van der Woude syndrome. At 2 years of age, the index patient was growing and feeding well. His intra-oral bands remained intact and were incorporated in the surgical repair using a novel approach. CONCLUSIONS: Since more otolaryngologists are performing cleft surgeries, the awareness of the differential diagnoses associated with a cleft palate is important. CPLS is an extremely rare condition. The report of this family supports the suspected pattern of autosomal dominant inheritance with variable expressivity. The unusual surgical approach will be discussed.
Authors:
Sreekrishna Kanth Donepudi; Rose Mary S Stocks; Enikö Kármán Pivnick; Corey Mineck; Jerome W Thompson
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-04-14
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  73     ISSN:  1872-8464     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-05-15     Completed Date:  2009-08-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  861-6     Citation Subset:  IM    
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, University of Tennessee Health Science Center, 910 Madison Avenue, Room 428, Memphis, TN 38163, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Alveolar Process
Cleft Palate / genetics,  surgery*
Humans
Infant
Male
Pedigree

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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