scholarly journals Apert syndrome: Diagnostic and management problems in a resource-limited country

2019 ◽  
Vol 11 (4) ◽  
Author(s):  
Makoura Barro ◽  
Yahaya S. Ouedraogo ◽  
Fatimata S. Nacro ◽  
Bintou Sanogo ◽  
Solange O. Kombasséré ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Choanal Atresia ◽  
University Hospital ◽  
Apert Syndrome ◽  
Psychomotor Development ◽  
Cardiac Ultrasound ◽  
Resource Limited ◽  
Craniofacial Dysmorphism ◽  
Rubella Serology ◽  
Hands And Feet

Apert syndrome or acrocephalosyndactyly is a rare genetic disease characterized by craniofacial dysmorphism and syndactyly of the hands and feet. We report an observation in a 4-month-old female infant, whose father was 65 years old. The infant was admitted to the neonatology of Sourô Sanou University Hospital (Burkina Faso) for respiratory distress in a congenital malformation disorders context with the notion of resuscitation for 10 minutes at birth. Her clinical examination revealed a craniofacial dysmorphism, syndactyly, choanal atresia, a cleft palate and a retardation of the psychomotor development. The paraclinical assessment consisted of a radiograph of the skeleton and a cerebral tomodensitometry confirming bicoronal synostosis and bone syndactyly; an abdominopelvic, cardiac ultrasound didn’t reveal any abnormalities; toxoplasmic serology was negative and rubella serology positive. The association of Apert syndrome with positive rubella serology seems fortuitous. Also, the association of choanal atresia and cleft palate has not commonly been reported in Apert syndrome. In the absence of surgical the infant has been followed until 9 months with therapeutic prospects.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

scholarly journals Apert syndrome: A case report

2012 ◽  
Vol 06 (01) ◽  
pp. 110-113 ◽  
Author(s):  
Zehra Ileri ◽  
Yasar Bedii Goyenc
Keyword(s):  
Case Report ◽  
Cleft Palate ◽  
Orthodontic Treatment ◽  
Multidisciplinary Approach ◽  
Apert Syndrome ◽  
Syndrome Patient ◽  
Second Child ◽  
Midface Hypoplasia ◽  
Long Time ◽  
Hands And Feet

ABSTRACTThe purpose of this report is to present Apert syndrome patient by highlighting craniofacial characteristics and orthodontic approach to treatmentThe patient, a 16-day-old female and the second child of healthy parents, was admitted to our department with primary complaint of cleft palate. She had a cone-shaped calvarium, midface hypoplasia, syndactyly of the hands and feet, hypertelorism, proptosis and cleft palate. After taking maxillary impression, an acrylic appliance was applied to orientate the growing and enable the feedingA case with Apert syndrome undergoes the orthodontic treatment for a long time and also a multidisciplinary approach is essential to determine the best collaborative corrective plan for the deficiencies of the patient. (Eur J Dent 2012;6:110-113)

An Investigation of the Relationship between Associated Congenital Malformations and the Mental and Psychomotor Development of Children with Clefts

2003 ◽  
Vol 40 (3) ◽  
pp. 297-303 ◽  
Author(s):  
Henriëtte F. N. Swanenburg de Veye ◽  
Frits A. Beemer ◽  
Gideon J. Mellenbergh ◽  
Wim H. G. Wolters ◽  
Josien A. Heineman-de Boer
Keyword(s):  
Cleft Palate ◽  
Congenital Malformations ◽  
Infant Development ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
University Hospital ◽  
Psychomotor Development ◽  
Dutch Version ◽  
Cross Sectional ◽  
The Relationship

Objective This research studied the relationship between associated congenital malformations and the mental and psychomotor development of children with clefts. Design The study was cross-sectional. Setting The study was conducted in a university hospital for children. Participants The sample consisted of 148 children with cleft lip, cleft palate, or both. Main Outcome Measures The children were assessed by a clinical geneticist at the age of 18 months. The children's level of development was determined by means of the Dutch version of the Bayley Scales of Infant Development. Results One-third of the total sample had associated malformations. Children with an isolated cleft lip showed the least. Children with an isolated cleft palate showed the highest percentage of minor malformations that are minor yet possibly worrisome. The total group achieved a mean developmental index (DI) on the mental scale of 98.9 with SD of 20.9. The motor scale showed a mean DI of 104.9 and SD of 24.7. Analysis of variance (ANOVA) showed that on the mental scale, the three main effects (diagnosis, evaluation, and sex) were significant at the 5% level. On the motor scale, only the main effect “evaluation” was significant. Conclusions This study demonstrated that children with associated congenital malformations might be disadvantaged with respect to their development. These malformations occurred most frequently with the cleft lip and palate and cleft palate only subgroups. More research, especially concerning the cleft palate only subgroup is needed because they are most at risk.

scholarly journals A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

2020 ◽  
Vol 3 (11) ◽  
pp. 352-354
Author(s):  
Pooja Gaur
Keyword(s):  
Case Report ◽  
Clinical Care ◽  
Open Bite ◽  
Apert Syndrome ◽  
Facial Features ◽  
Type I ◽  
Anterior Open Bite ◽  
Rare Type ◽  
Patient Reported ◽  
Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

Greater Palatal Cleft Width Predicts an Increased Risk for Unfavorable Outcomes in Cleft Palate Repair

2021 ◽  
pp. 105566562110295
Author(s):  
Åsa C. Okhiria ◽  
Fatemeh Jabbari ◽  
Malin M. Hakelius ◽  
Monica M. Blom Johansson ◽  
Daniel J. Nowinski
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
University Hospital ◽  
Velopharyngeal Insufficiency ◽  
Secondary Surgery ◽  
Increased Risk ◽  
Cleft Palate Repair ◽  
The Impact ◽  
Nasal Emission

Objective: To investigate the impact of cleft width and cleft type on the need for secondary surgery and velopharyngeal competence from a longitudinal perspective. Design: Retrospective, longitudinal study. Setting: A single multidisciplinary craniofacial team at a university hospital. Patients: Consecutive patients with unilateral or bilateral cleft lip and palate and cleft palate only (n = 313) born from 1984 to 2002, treated with 2-stage palatal surgery, were reviewed. A total of 213 patients were included. Main Outcome Measures: The impact of initial cleft width and cleft type on secondary surgery. Assessment of hypernasality, audible nasal emission, and glottal articulation from routine follow-ups from 3 to 16 years of age. The assessments were compared with reassessments of 10% of the recordings. Results: Cleft width, but not cleft type, predicted the need for secondary surgery, either due to palatal dehiscence or velopharyngeal insufficiency. The distribution of cleft width between the scale steps on a 4-point scale for hypernasality and audible nasal emission differed significantly at 5 years of age but not at any other age. Presence of glottal articulation differed significantly at 3 and 5 years of age. No differences between cleft types were seen at any age for any speech variable. Conclusions: Cleft width emerged as a predictor of the need for secondary surgery as well as more deviance in speech variables related to velopharyngeal competence during the preschool years. Cleft type was not related to the need for secondary surgery nor speech outcome at any age.

The Correlation between Nasalance and a Differentiated Perceptual Rating of Speech in Dutch Patients with Velopharyngeal Insufficiency

2002 ◽  
Vol 39 (3) ◽  
pp. 277-284 ◽  
Author(s):  
Kornelis H.D.M. Keuning ◽  
George H. Wieneke ◽  
Hans A. Van Wijngaarden ◽  
Philippe H. Dejonckere
Keyword(s):  
Cleft Palate ◽  
Correlation Coefficients ◽  
University Hospital ◽  
Velopharyngeal Insufficiency ◽  
Visual Analog Scales ◽  
Cleft Palate Speech ◽  
Normal Text ◽  
The Mean ◽  
Lower Correlation ◽  
Nasal Emission

Objective: The correlation between the nasalance score and the perceptual rating of several aspects of speech of speakers with velopharyngeal insufficiency (VPI) by six speech-language pathologists was evaluated. Procedure: The overall grade of severity, hypernasality, audible nasal emission, misarticulations, and intelligibility were rated on visual analog scales. Speech samples with a normal distribution of phonemes (normal text [NT]) and those free of nasal consonants (denasal text [DT]) of 43 patients with VPI were used. Mean nasalance scores were computed for the speech samples, and Spearman correlation coefficients were computed between the mean nasalance score and the five parameters of the differentiated rating. Setting: The Institute of Phoniatrics, Utrecht University Hospital, The Netherlands. Results: The correlation coefficient between the mean nasalance and the perceptual rating of hypernasality ranged among judges from .31 to .56 for NT speech samples and .36 to .60 for DT speech samples. Only small differences were found between speech pathologists with and without expertise in cleft palate speech. The rating of the overall grade of severity appeared to correlate quite well with the rating of the intelligibility (rNT = .77, rDT = .79). Lower correlation coefficients, ranging from .34 to .71, were found between overall grade of severity and hypernasality, audible nasal emission, and mis-articulations. Conclusions: A low correlation between the nasalance and the perceptual rating of hypernasality was found. The parameter overall grade of severity appeared to be determined mainly by the parameter intelligibility. Expertise in rating of cleft palate speech does not guarantee a high correlation between instrumental measurement and perceptual rating.

scholarly journals Computerized Axial Tomography Findings in Children with Afebrile Seizures: A Hospital Based Study at Eastern Nepal

2017 ◽  
Vol 15 (1) ◽  
pp. 61-66
Author(s):  
Prakash Poudel ◽  
Mukesh Kumar Gupta ◽  
Shyam Prasad Kafle
Keyword(s):  
Ct Scan ◽  
University Hospital ◽  
Limited Area ◽  
Axial Tomography ◽  
Female Ratio ◽  
Resource Limited ◽  
Standard Guideline ◽  
History Of ◽  
Computerized Axial Tomography ◽  
Afebrile Seizure

Background: Computerized Tomography can be performed in resource limited areas where Magnetic Resonance Imaging is less practical. This study was conducted to find out the proportion of cases with abnormal CT scan and findings of CT scan in children with afebrile seizures in a resource limited area.Methods: This prospective study was conducted from 1st July 2009 to 31st March 2014 in a university hospital of Nepal. Patients (1 month to 20 years of age) presenting with history of afebrile seizure were included. Neuroimaging was prescribed; children were treated and followed-up as per standard guideline. Data were analyzed using SPSS 16.0.Results: There were 447 children with afebrile seizures included in the study. Male to female ratio was 1.6:1. Median age at presentation was 84 (interquartile range 36-144) months. CT scan was done in 321 (71.8%) cases. CT was abnormal in 143 cases, accounting for 32.0% out of total cases and 44.5% out of investigated cases. Among investigated cases, common CT findings were atrophy (13.4%), neurocysticercosis (12.1%), structural abnormalities (4.4%), stroke (3.7%), post-encephalitis changes (3.1%), nonspecific calcification (1.6%), tuberculoma (1.2%), tumor (0.9%), neurocutaneous syndromes (0.9%), hydrocephalus (0.9%) and other findings (2.2%).Conclusions: In a resource limited area CT scan is a valuable alternative tool in evaluating a child with afebrile seizure. Majority of these children have remote symptomatic seizures and the underlying brain pathologies can be well detected by CT scan.

scholarly journals Correlation Between Dysphagia and Malocclusion in Rett Syndrome: A preliminary study

2019 ◽  
Vol 18 (4) ◽  
pp. 489
Author(s):  
Serena Cocca ◽  
Massimo Viviano ◽  
Michele Loglisci ◽  
Stefano Parrini ◽  
Giovanni Monciatti ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Epileptic Seizures ◽  
University Hospital ◽  
Severe Dysphagia ◽  
Feeding And Eating Disorders ◽  
Craniofacial Dysmorphism ◽  
The Mean ◽  
Preliminary Study ◽  
The University ◽  
Mild Dysphagia

Objectives: Rett syndrome (RS) is a severe neurological developmental disorder characterised by stereotypical hand movements, epileptic seizures, craniofacial dysmorphism and digestive dysfunction. This study aimed to examine the correlation between the severity of malocclusion and dysphagia in patients with RS. Methods: This preliminary study was conducted at the Ear, Nose & Throat Clinic of the University Hospital of Siena, Siena, Italy, from January 2014 to December 2017. A total of 56 patients with RS were examined and grouped according to the severity of dysphagia (absent, mild, moderate or severe) and malocclusion (<2 mm, 2–3 mm, 3–4 mm or >4 mm). Results: All of the patients were female and the mean age was 11.3 years. Eight (14.3%) patients had mild, 18 (32.1%) had moderate and 30 (53.6%) had severe dysphagia. Four (7.1%) patients had <2 mm occlusion, 10 (17.9%) had 2–3 mm occlusion, 26 (46.4%) had 3–4 mm occlusion and 16 (28.6%) had >4 mm occlusion. Mild dysphagia was observed in 100% and 40% of patients with <2 and 2–3 mm malocclusion, respectively, while moderate dysphagia was present in 60% and 38.5% of patients with 2–3 and 3–4 mm malocclusion, respectively. Severe dysphagia was observed in 28.6% and 87.5% of patients with 3–4 and >4 mm malocclusion, respectively. There was a significant correlation between dysphagia and malocclusion severity (P <0.001). Conclusion: A higher degree of malocclusion was associated with more severe dysphagia among a cohort of patients with RS.Keywords: X-Linked Mental Retardation; Rett Syndrome; Dysphagia; Malocclusion; Feeding and Eating Disorders of Childhood.

Single Suture Synostosis and Isolated Cleft Palate in Non-Apert Syndrome Patients

2019 ◽  
Vol 30 (2) ◽  
pp. 363-365
Author(s):  
Theodore Pezas ◽  
Rona Slator ◽  
Nicholas White ◽  
Mark Lloyd
Keyword(s):  
Cleft Palate ◽  
Apert Syndrome ◽  
Isolated Cleft Palate ◽  
Single Suture
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