scholarly journals Di George syndrome: Catch 22 (A case report)

2019 ◽  
pp. 128-131
Author(s):  
Aditi Bector ◽  
Mrigank Dogra ◽  
Sumeet Rajpal
Keyword(s):  
Cleft Palate ◽  
Velocardiofacial Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Facial Dysmorphism ◽  
Feeding Difficulties ◽  
Behavioral Abnormalities ◽  
Chromosome 22Q11.2 ◽  
High Prevalence ◽  
Catch 22 ◽  
Di George Syndrome

The deletion of chromosome 22q11.2 is described as Velocardiofacial Syndrome orDi George Syndrome. CATCH 22 stands for cardiac defect, abnormal faces, thymichypoplasia, cleft palate, hypocalcaemia.Other defects seen are velopharyngeal insufficiency with or without cleft palate,immune problems, feeding difficulties, hypocalcaemia, learning disabilities,behavioral abnormalities and lastly characteristic facial features.A high prevalence ofdental caries, abnormalities of tooth shape, eruption and number, and enamel defectssuch as hypomineralisation and hypoplasia are also seen in these patients.A case of 7year old child with Veligocardiofacial syndrome is discussed in thisarticle. Facial dysmorphism and common dental manifestations is typically noticeablein patients with this syndrome. Enamel aberrations related to hypocalcemia mayresult in a higher frequency of dental caries. The dentists need to be aware of thedental features of this condition in order to refer them to the adequate specialists.

Is Isolated Palatal Anomaly an Indication to Screen for 22q11 Region Deletion?

2003 ◽  
Vol 40 (2) ◽  
pp. 176-179 ◽  
Author(s):  
Orit Reish ◽  
Yehuda Finkelstein ◽  
Ronit Mesterman ◽  
Ariela Nachmani ◽  
Baruch Wolach ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Young Patients ◽  
Velocardiofacial Syndrome ◽  
Clinical Findings ◽  
Velopharyngeal Insufficiency ◽  
Facial Dysmorphism ◽  
22Q11 Deletion ◽  
22Q11 Region

Objective Velocardiofacial syndrome (VCFS) is the most common multiple anomaly disorder associated with palatal clefting. Cytogenetic hemizygous deletion of 22q11 region is found in 80% of patients. The frequency of 22q11 deletion in patients presenting with isolated palatal anomalies has not been fully assessed. Our objective was to determine the frequency of the deletion in patients with isolated palatal anomalies. Design Patients were referred because of velopharyngeal insufficiency because of isolated congenital palatal anomalies. Diagnosis of palatal anomalies was confirmed by videonasopharyngoscopy, multiview videofluoroscopy and cephalometry. Other clinical findings suggestive of VCFS were sought, and subjects with these characteristics were excluded from the study. Peripheral blood samples from all patients were analyzed cytogenetically utilizing fluorescent in situ hybridization for the 22q11 region. Results Thirty-eight patients aged 3 to 31 years were included in the study. Nine had cleft palate, 7 cleft lip and palate, 10 overt and 11 occult submucous cleft palate, and 1 had a deep nasopharynx. No deletion of 22q11 region was detected in any of the evaluated patients. Conclusions A routine screening for the 22q11 deletion in older children and adults presenting with an isolated palatal anomaly may not be required. Because other signs related to VCFS such as facial dysmorphism and behavioral or psychiatric disorders may evolve at an older age, young patients should be followed up and reevaluated for additional relevant symptoms that may lead to deletion evaluation. In light of the fact that the current literature is inconsistent, the relative small size of this study and the significant consequences of missed 22q11.2 deletion, more information is needed before definitive recommendations can be made.

Cleft Palate

2018 ◽  
Author(s):  
Oksana A Jackson ◽  
Alison E Kaye ◽  
David W Low
Keyword(s):  
Cleft Palate ◽  
Normal Function ◽  
Speech Development ◽  
Velopharyngeal Insufficiency ◽  
Surgical Interventions ◽  
Feeding Difficulties ◽  
Oronasal Fistula ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Impaired Speech

A cleft of the palate represents one of the most common congenital anomalies of the craniofacial region. Palatal clefting can occur in combination with a cleft of the lip and alveolus or as an isolated finding and can vary significantly in severity. The intact palate is a structure that separates the oral and nasal cavities, and the function of the palate is to close off the nasal cavity during deglutition and to regulate the flow of air between the nose and mouth during speech production. An unrepaired cleft palate can thus result in nasal regurgitation of food and liquid, early feeding difficulties, and impaired speech development. The goals of surgical repair are to restore palatal integrity by closing the cleft defect and repairing the musculature to allow for normal function during speech. The secondary goal of cleft palate repair is to minimize deleterious effects on growth of the palate and face, which can be impacted by standard surgical interventions. This review describes two of the most commonly performed cleft palate repair techniques in use today, as well as highlighting special anatomic considerations, summarizing perioperative care, and reviewing postoperative complications and their management. This review contains 11 figures, 2 videos, 3 tables and 63 references Key words: cleft, cleft team, Furlow, orofacial, oronasal fistula, palatoplasty, speech, submucous cleft, velopharyngeal insufficiency

Treatment of Asymmetric Velopharyngeal Insufficiency with Skewed Pharyngeal Flap

1994 ◽  
Vol 31 (4) ◽  
pp. 287-294 ◽  
Author(s):  
Ravelo V. Argamaso ◽  
Gerald J. Levandowski ◽  
Karen J. Golding-Kushner ◽  
Robert J. Shprintzen
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Tumor Resection ◽  
Velocardiofacial Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Lateral Pharyngeal Wall ◽  
Pharyngeal Wall ◽  
Wall Movement ◽  
Hypernasal Speech

Twenty-two patients, with hypernasal speech and asymmetric velopharyngeal insufficiency (VPI) identified preoperatively by multi-view videofluoroscopy and nasopharyngoscopy, were managed with superiorly based pharyngeal flaps skewed to the side with reduced lateral pharyngeal wall movement. Patient age ranged from 5 to 58 years. The etiology of the VPI included cleft palate with or without cleft lip, neurogenic VPI, velocardiofacial syndrome, tumor resection or latrogenic causes, submucous cleft palate, neurofibromatosis, and hemifacial microsomia. Follow-up, at 1 year and thereafter, showed resolution of VPI in all but two patients. An auxiliary flap to augment the primary flap was added on the side of diminished lateral pharyngeal wall motion which corrected the residual VPI. Three patients developed hyponasality. One was a child whose symptoms improved with time and growth. Two were adults, but the hyponasal resonance was mild and required no further Intervention. The advantage of skewing flaps is that at least one port functions adequately for ease in respiration and for drainage of secretions, thus reducing the risk of nasal obstruction. One open port also allows access for nasoendotracheal intubation should anesthetic be required for future operations.

Cleft Palate

2018 ◽  
Author(s):  
Oksana A Jackson ◽  
Alison E Kaye ◽  
David W Low
Keyword(s):  
Cleft Palate ◽  
Normal Function ◽  
Speech Development ◽  
Velopharyngeal Insufficiency ◽  
Surgical Interventions ◽  
Feeding Difficulties ◽  
Oronasal Fistula ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Impaired Speech

A cleft of the palate represents one of the most common congenital anomalies of the craniofacial region. Palatal clefting can occur in combination with a cleft of the lip and alveolus or as an isolated finding and can vary significantly in severity. The intact palate is a structure that separates the oral and nasal cavities, and the function of the palate is to close off the nasal cavity during deglutition and to regulate the flow of air between the nose and mouth during speech production. An unrepaired cleft palate can thus result in nasal regurgitation of food and liquid, early feeding difficulties, and impaired speech development. The goals of surgical repair are to restore palatal integrity by closing the cleft defect and repairing the musculature to allow for normal function during speech. The secondary goal of cleft palate repair is to minimize deleterious effects on growth of the palate and face, which can be impacted by standard surgical interventions. This review describes two of the most commonly performed cleft palate repair techniques in use today, as well as highlighting special anatomic considerations, summarizing perioperative care, and reviewing postoperative complications and their management. This review contains 11 figures, 2 videos, 3 tables and 63 references Key words: cleft, cleft team, Furlow, orofacial, oronasal fistula, palatoplasty, speech, submucous cleft, velopharyngeal insufficiency

The Prevalence of Apraxia Characteristics in Patients with Velocardiofacial Syndrome as Compared with Other Cleft Populations

2007 ◽  
Vol 44 (2) ◽  
pp. 175-181 ◽  
Author(s):  
Ann W. Kummer ◽  
Linda Lee ◽  
Lindsay Schaadt Stutz ◽  
Adam Maroney ◽  
Jennifer Weidenbach Brandt
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Medical Center ◽  
Velocardiofacial Syndrome ◽  
High Prevalence ◽  
History Of ◽  
Oral Motor Function ◽  
A Prospective Study ◽  
Abnormal Brain

Objective: The purpose of this study was to assess the oral-motor function of children with a history of cleft lip and palate, cleft palate only, velocardiofacial syndrome, and children with normal oral structures to determine if children with velocardiofacial syndrome have more apraxia characteristics than the other populations have. Design: The Apraxia Profile (Hickman, 1997) was administered to all participants in a prospective study. Setting: The investigation was conducted at Cincinnati Children's Hospital Medical Center. Participants: In this study, 10 children with cleft lip and palate, 10 with cleft palate only, 7 with velocardiofacial syndrome, and 47 with normal structures were tested. Results: This study revealed that when compared with children with normal structures, children with cleft lip and palate did not demonstrate significant apraxia characteristics, children with cleft palate only demonstrated some apraxia characteristics, and children with velocardiofacial syndrome demonstrated the most apraxia characteristics. Conclusions: There appears to be a high prevalence of apraxia characteristics in the speech of patients with velocardiofacial syndrome. This information has implications for the type of treatment recommended. Further investigation is warranted with a larger patient population and a focus on the association of abnormal brain structure with apraxia in this population.

scholarly journals CASE REPORT : PARTIAL DIGEORGE SYNDROME PRESENTING IN ADULTHOOD

2020 ◽  
pp. 1-2
Author(s):  
Raghav R Nagpal ◽  
Mitesh Thakkar ◽  
Jaishree Ghanekar
Keyword(s):  
Digeorge Syndrome ◽  
Congenital Heart ◽  
Strong Predictor ◽  
Velocardiofacial Syndrome ◽  
Microdeletion Syndrome ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
Catch 22 ◽  
Adult Presentation ◽  
Variable Penetrance

Digeorge syndrome is the most common microdeletion syndrome, and probably underrecognized due to the varied manifestations and variable penetrance. Only a few cases of adult presentation of Digeorge Syndrome have been described in the literature. It is also known as velocardiofacial syndrome or CATCH 22 syndrome. Classically abnormal facies, congenital heart disease , thymus dysplasia, cleft palate , hypocalcemia due to hypoparathyroidism are seen. Hypocalcemia is a strong predictor of digeorge syndrome whenever associated with other clinical features. Patients with chromosome 22q11.2 deletion do not always show all components of DGS. Hypoparathyroidism can be the only abnormality and may exist with no accompanying cardiac or immunologic defects. Here we report a case of 28 year old man presenting in adulthood with hypocalcemia induced tetany and diagnosed as having partial Digeorge syndrome.

Clinical Correlation of Chromosome 22q11.2 Fluorescent in Situ Hybridization Analysis and Velocardiofacial Syndrome

2007 ◽  
Vol 44 (1) ◽  
pp. 62-66 ◽  
Author(s):  
Albert K. Oh ◽  
Laura A. Workman ◽  
Granger B. Wong
Keyword(s):  
Cleft Palate ◽  
Developmental Delay ◽  
Clinical Features ◽  
Fluorescent In Situ Hybridization ◽  
Velocardiofacial Syndrome ◽  
Fish Analysis ◽  
Small Stature ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion

Objective: To identify characteristics associated with microdeletions of chromosome 22q11.2 ascertained by fluorescent in situ hybridization (FISH) analysis in patients with velopharyngeal insufficiency (VPI), cleft palate, or other clinical features of velocardiofacial syndrome (VCFS). Design/Setting: Retrospective review of all patients entered at one tertiary-level multidisciplinary cleft lip and palate and craniofacial anomalies panel from January 2000 to December 2003. Patients: The study consisted of 115 patients. The presence or absence of the following clinical features was documented: cleft palate (submucous and overt), VPI, cardiac anomalies, renal anomalies, small stature, characteristic facies, developmental delay, psychiatric dysfunction, and family history. Main Outcome Measure: Correlation between presence or absence of clinical features of VCFS and presence or absence of 22q11.2 microdeletion by FISH analysis. Results: Of the 16 patients (13.9%) who demonstrated 22q11.2 microdeletion by FISH analysis, 16 had VPI (100%), 16 had small stature (100%), 14 had cleft palate (88%), and 13 had characteristic facies (81%). Developmental delay was also present in 13 of these patients (81%), and seven had cardiac anomalies (44%). Multiple regression analysis revealed that the presence of characteristic facies and small stature statistically correlated with microdeletions of chromosome 22q11.2 by FISH studies (p < .05). Conclusions: Patients with microdeletions of chromosome 22q11.2 as demonstrated by FISH analysis were more likely to have VPI, small stature, cleft palate, characteristic facies, and developmental delay, in descending order. Statistical analysis showed that only characteristic facies and small stature correlated with 22q11.2 microdeletions.

Craniofacial Morphology of Conotruncal Anomaly Face Syndrome

1997 ◽  
Vol 34 (5) ◽  
pp. 425-429 ◽  
Author(s):  
Ichiko Kitano ◽  
Susam Park ◽  
Kogo Kato ◽  
Naotsugu Nitta ◽  
Tsuyoshi Takato ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Velocardiofacial Syndrome ◽  
Craniofacial Morphology ◽  
Published Data ◽  
Nasal Bridge ◽  
Gonial Angle ◽  
Catch 22 ◽  
Small Mouth ◽  
Conotruncal Anomaly Face Syndrome

Objective and Design: The conotruncal anomaly face syndrome (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many discussions about the overlap with velocardiofacial syndrome (VCF). The aim of this study was to clarify the craniofacial characteristics of CTAF patients by clinical examination, and photogrammetric and cephalometric analyses, and to clarify the differences compared to published data on VCF. Results: The facial features of CTAF included hypertelorism, small palpebral fissures, upward slanting of palpebral fissures, bloated eye lids, low nasal bridge, small mouth, open mouth at rest, and malformed auricles. Cephalometric features included bialveolar protrusion, small gonial angle, backward rotation of the mandibular ramus, and labial inclination of the maxillary incisors. An acute cranial base angle was also noted. These results differed from those of VCF. There were, however, no obvious pathognomonic findings for the differential diagnosis between CTAF and VCF. Conclusions: Considering these findings, use of CATCH 22, the inclusive classification of cardiac anomalies, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.

Cleft Lip and Palate in CHARGE Syndrome

2017 ◽  
Vol 55 (3) ◽  
pp. 342-347 ◽  
Author(s):  
Kathryn V. Isaac ◽  
Ingrid M. Ganske ◽  
Stephen A. Rottgers ◽  
So Young Lim ◽  
John B. Mulliken
Keyword(s):  
Hearing Loss ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Choanal Atresia ◽  
Semicircular Canals ◽  
Charge Syndrome ◽  
Velopharyngeal Insufficiency ◽  
Feeding Difficulties ◽  
Dentofacial Orthopedics

Objective: Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children. Design: This is a retrospective review from 1998 to 2016. Patients: Patients with CHARGE syndrome were diagnosed clinically and genetically. Main Outcomes Measures: Prevalence of CL/P was determined and clinical details tabulated: phenotypic anomalies, cleft types, operative treatment, and results of repair. Results: CHARGE syndrome was confirmed in 44 patients: 11 (25%) had cleft lip and palate and 1 had cleft palate only. Surgical treatment followed our usual protocols. Two patients with cardiac anomalies had prolonged recovery following surgical correction, necessitating palatal closure prior to nasolabial repair. One of these patients was too old for dentofacial orthopedics and underwent combined premaxillary setback and palatoplasty, prior to labial closure. Velopharyngeal insufficiency was frequent (n = 3/7). All patients had feeding difficulty and required a gastrostomy tube. All patients had neurosensory hearing loss; anomalies of the semicircular canals were frequent (n = 3/4). External auricular anomalies, colobomas, and cardiovascular anomalies were also common (n = 8/11). Other associated anomalies were choanal atresia (n = 4/11) and tracheoesophageal fistula (n = 2/11). Conclusions: CHARGE syndrome is an under-recognized genetic cause of cleft lip and palate. Hearing loss and speech and feeding difficulties often occur in these infants. Diagnosis can be delayed if the child presents with covert phenotypic features, such as chorioretinal colobomas, semicircular canal hypoplasia, and unilateral choanal atresia.

scholarly journals Adenoidectomy for middle ear disease in cleft palate children: a systematic review

2021 ◽  
Author(s):  
Cecilia Rosso ◽  
Antonio Mario Bulfamante ◽  
Carlotta Pipolo ◽  
Emanuela Fuccillo ◽  
Alberto Maccari ◽  
...  
Keyword(s):  
Systematic Review ◽  
Cleft Palate ◽  
Otitis Media ◽  
Middle Ear ◽  
Acute Otitis Media ◽  
Case Series ◽  
Velopharyngeal Insufficiency ◽  
Middle Ear Disease ◽  
Conductive Hearing

Abstract Purpose Cleft palate children have a higher incidence of otitis media with effusion, more frequent recurrent acute otitis media episodes, and worse conductive hearing losses than non-cleft children. Nevertheless, data on adenoidectomy for middle ear disease in this patient group are scarce, since many feared worsening of velopharyngeal insufficiency after the procedure. This review aims at collecting the available evidence on this subject, to frame possible further areas of research and interventions. Methods A PRISMA-compliant systematic review was performed. Multiple databases were searched with criteria designed to include all studies focusing on the role of adenoidectomy in treating middle ear disease in cleft palate children. After duplicate removal, abstract and full-text selection, and quality assessment, we reviewed eligible articles for clinical indications and outcomes. Results Among 321 unique citations, 3 studies published between 1964 and 1972 (2 case series and a retrospective cohort study) were deemed eligible, with 136 treated patients. The outcomes were positive in all three articles in terms of conductive hearing loss improvement, recurrent otitis media episodes reduction, and effusive otitis media resolution. Conclusion Despite promising results, research on adenoidectomy in treating middle ear disease in the cleft population has stopped in the mid-Seventies. No data are, therefore, available on the role of modern conservative adenoidectomy techniques (endoscopic and/or partial) in this context. Prospective studies are required to define the role of adenoidectomy in cleft children, most interestingly in specific subgroups such as patients requiring re-tympanostomy, given their known risk of otologic sequelae.

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