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Publications (3)6.88 Total impact

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    ABSTRACT: The purpose of this study was to examine the efficacy of tongue-lip adhesion (TLA) in the management of clinically significant airway obstruction associated with Pierre Robin sequence. The records of all children admitted to The Children's Hospital of Philadelphia with a diagnosis of Pierre Robin sequence were reviewed. Charts were reviewed for birth data, diagnosis, preoperative airway management methods, and surgical intervention. Records of infants undergoing TLA were analyzed for timing of surgery, operative technique, postoperative complications, length of hospital stay, and treatment outcome. Over the 28-year period 1971 to 1999, 107 patients (47 boys, 60 girls) meeting the criteria for Pierre Robin sequence were admitted for treatment. Of these, 74 (69.2%) were successfully managed by positioning alone. Surgical management of the airway was performed in the remaining 33 (30.8%) patients, 29 of whom underwent TLA and 4 of whom underwent tracheostomy. Dehiscence of the adhesion occurred in five patients (17.2%), two of whom subsequently required tracheostomy. Within the group of patients who underwent mucosal adhesion alone, the dehiscence rate was 41.6%. When the adhesion included muscular sutures, however, dehiscence was not observed in any patient. Of the 24 patients in whom primary TLA healed uneventfully, airway obstruction was successfully relieved in 20 (83.3%). Failure of a healed TLA to relieve the airway obstruction resulted in conversion to a tracheostomy in four patients. Six patients who underwent TLA (20.7%) ultimately required a tracheostomy; five of these patients (83.3%) were syndromic. Of patients requiring preoperative intubation, 42.9% ultimately required tracheostomy. TLA successfully relieves airway obstruction that is unresponsive to positioning alone in the majority of patients with Pierre Robin sequence and should therefore play an important role in the management of these infants.
    The Cleft Palate-Craniofacial Journal 02/2003; 40(1):13-8. · 1.24 Impact Factor
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    ABSTRACT: Conotruncal cardiac anomalies frequently occur in patients with DiGeorge or velocardiofacial syndrome. Additionally, these patients may have overt or submucousal cleft palate, as well as velopharyngeal incompetence (VPI). Previous studies have demonstrated that the majority of these patients have a submicroscopic deletion of chromosome 22q11.2. We hypothesized that a subpopulation of newborns and children with congenital heart defects caused by a 22q11.2 deletion are at a high risk for having unrecognized palatal abnormalities. Therefore, we proposed to evaluate a cohort of patients with conotruncal cardiac malformations associated with a 22q11.2 deletion to determine the frequency of palatal abnormalities. We identified 14 deletion-positive patients with congenital cardiac defects who had no overt cleft palate. Of the 14 patients evaluated for the 22q11.2 deletion, 8 patients were recruited from a previous study looking for deletions among patients with isolated conotruncal cardiac anomalies. Informed consent was obtained in these cases. The remaining patients had the deletion study on a clinical basis, ie, conotruncal cardiac defect and an absent thymus, immunodeficiency, or minor dysmorphia appreciated by the clinical geneticist. These patients were evaluated by a plastic surgeon and speech pathologist looking for more subtle palatal anomalies such as a submucousal cleft palate, absence of the musculous uvuli, and VPI. Some patients underwent videofluoroscopy or nasendoscopy depending on their degree of symptoms and age. VPI was not ruled out until objective evaluation by a speech pathologist and plastic surgeon was obtained. In addition, the child had to be old enough to provide an adequate speech sample. Of the 14 patients evaluated, 6 patients older than 1 year were found to have VPI. It is noteworthy that 3 of these patients were older than 5 years and had remained unrecognized until this study. The remaining 6 patients had inconclusive studies based on their age (younger than 26 months) and their inability to participate in adequate speech evaluations. Two of these patients, however, had histories of nasal regurgitation suggesting VPI and, in addition, had incomplete closure of the velopharyngeal mechanism during crying and swallowing observed during nasendoscopic examination-consistent with the diagnosis of VPI. Thus, 8 of 14 patients evaluated had evidence of VPI by history and examination. The remaining 6 patients will require further study when they are older before a definitive palatal diagnosis can be made. A significant number of patients with a 22q11.2 deletion in a cardiac clinic may have unrecognized palatal problems. Recognition of such abnormalities will afford patients the opportunity for intervention as needed, ie, speech therapy and/or surgical intervention. Notably, two of our patients with findings suggesting VPI were infants and will, therefore, be afforded the opportunity for close follow-up and early intervention. Furthermore, three school-aged children had palatal abnormalities that were unrecognized until this study. Thus, we recommend 22q11.2 deletion studies in patients with conotruncal cardiac malformations, followed by extensive palatal and speech evaluations when a deletion is present.
    PEDIATRICS 06/1997; 99(5):E9. · 4.47 Impact Factor
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    ABSTRACT: A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and in some patients with isolated conotruncal cardiac anomalies, Opitz G/BBB syndrome, and Cayler cardiofacial syndrome. We have evaluated 181 patients with this deletion. We describe our cohort of patients, how they presented, and what has been learned by having the same subspecialists evaluate all of the children. The results help define the extremely variable phenotype associated with this submicroscopic deletion and will assist clinicians in formulating a management plan based on these findings.
    Genetic Testing 02/1997; 1(2):99-108. · 1.17 Impact Factor