scholarly journals Interhypothalamic Adhesion in a 9-Month-Old Male with Cleft Palate

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Matthew T. Whitehead ◽  
Jacqueline D. S. Angel

A 9-month-old male infant with multiple congenital anomalies including cleft lip and palate was referred to us for a brain MR to exclude additional intracranial abnormalities. Imaging revealed an interhypothalamic adhesion, which we present as a possible forme fruste of holoprosencephaly.

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.


2012 ◽  
Vol 50 (6) ◽  
pp. 541-544 ◽  
Author(s):  
Hüseyin Altunhan ◽  
Ali Annagür ◽  
Murat Konak ◽  
Sabahattin Ertuğrul ◽  
Rahmi Örs ◽  
...  

Medicina ◽  
2013 ◽  
Vol 49 (2) ◽  
pp. 11
Author(s):  
Aušra Matulevičienė ◽  
Eglė Preikšaitienė ◽  
Laura Linkevičienė ◽  
Marijus Radavičius ◽  
Alma Molytė ◽  
...  

Background and Objective. The first step in the search for the genetic basis of oral clefts should be the well-accepted classification and clinical data protocols, which are important in distinguishing separate phenotypic groups. The aim of this study was to compare the frequency of congenital malformations associated with oral clefts between the different groups of oral clefts. Material and Methods. The study population comprised 238 patients with oral clefts and one or more major congenital anomalies. All cases of oral clefts were subdivided into 2 groups: patients with the recognized conditions (n=97, 40.8%) and patients with the multiple congenital anomalies of unknown origin (n=141, 59.2%). The frequency of associated congenital anomalies was compared between the cleft palate (CP) and cleft lip and/or palate (CL/P) groups as well as between the cleft lip only (CL) and cleft lip with cleft palate (CLP) subgroups. Results. A total of 420 anomalies associated with oral clefts were diagnosed in 141 patients with multiple congenital anomalies (2.98 anomalies per proband) with the highest incidence being in the CP group (3.5 anomalies per proband). Comparison of the CP and CL/P groups showed that some of associated congenital anomalies such as atresia and stenosis of the small intestine and micrognathia occurred significantly more often in the CP than CL/P group (2.1% vs. 0% and 3.5% vs. 1.1%; P<0.05). Meanwhile, comparison of the CL and CLP subgroups revealed accessory auricle, other specified anomalies of the ear, congenital anomalies of the circulatory system, and certain congenital musculoskeletal deformities of the spine to be more common in the CL than CLP group (5.1% and 0.5%, 11.9% and 5.1%, 3.4% and 0%, 3.4% and 0%, respectively; P<0.05). Conclusions. The highest incidence of associated congenital anomalies was in the CP group followed by the CL, CL/P, and CLP groups. Generally, the anomalies of the musculoskeletal system, cardiovascular system, and face including eye, ear, and neck were most common. The careful analysis of associated anomalies and cases of oral cleft subgroups with multiple congenital anomalies is helpful in identifying the etiologic entities and underscores the need for thorough evaluation and competent distinction of various types of oral clefts.


2019 ◽  
Vol 9 (1) ◽  
pp. 6-10
Author(s):  
Sanzida Khatun

Introduction: Cleft lip and/or palate is a congenitally persistent space affecting orofacial region. It is generally divided into cleft lip (CL), cleft palate (CP) and cleft lip with cleft palate (CLP). The objective of the study was to evaluate distribution of patterns of orofacial clefts according to sex and laterality; predisposing factors and other congenital anomalies associated with cleft lip and/or palate. Materials & Method: A cross-sectional descriptive type of study was carried out using in 268 patients having cleft lip and/or palate. Types of clefts, predominance of sex and laterality, familial history, associated anomalies and drug and disease history of mother were recorded. Result: The results revealed 23.51% CL, 54.85% CLP and 21.64% CP. There were 58.21% males and 41.79% females. Positive family history of cleft was present in 28.0% and associated anomalies were observed in 3.7% of the cleft subjects. Mothers of 6.0% of the total patients were exposed to teratogenic agents during first trimester of pregnancy. Conclusion: It was concluded that among the three types of cleft (CL, CP and CLP), CLP is the most common type. The males are affected more with cleft lip and/or palate than the females. Clefts also have risks of associated congenital anomalies. Exposure to teratogenic agents in first trimester of pregnancy is also associated with orofacial cleft.


2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Ebner Bon G. Maceda ◽  
Erena S. Kasahara ◽  
Edsel Allan G. Salonga ◽  
Myrian R. Dela Cruz ◽  
Leniza De Castro-Hamoy

Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos


2020 ◽  
pp. 105566562098024
Author(s):  
Kim Bettens ◽  
Laura Bruneel ◽  
Cassandra Alighieri ◽  
Daniel Sseremba ◽  
Duncan Musasizib ◽  
...  

Objective: To provide speech outcomes of English-speaking Ugandan patients with a cleft palate with or without cleft lip (CP±L). Design: Prospective case–control study. Setting: Referral hospital for patients with cleft lip and palate in Uganda. Participants: Twenty-four English-speaking Ugandan children with a CP±L (15 boys, 9 girls, mean 8.4 years) who received palatal closure prior to 6 months of age and an age- and gender-matched control group of Ugandan children without cleft palate. Interventions: Comparison of speech outcomes of the patient and control group. Main Outcome Measures: Perceptual speech outcomes including articulation, resonance, speech understandability and acceptability, and velopharyngeal composite score (VPC-sum). Information regarding speech therapy, fistula rate, and secondary surgery. Results: Normal speech understandability was observed in 42% of the patients, and 38% were judged with normal speech acceptability. Only 16% showed compensatory articulation. Acceptable resonance was found in 71%, and 75% of the patients were judged perceptually to present with competent velopharyngeal function based on the VPC-sum. Additional speech intervention was recommended in 25% of the patients. Statistically significant differences for all these variables were still observed with the control children ( P < .05). Conclusions: Overall, acceptable speech outcomes were found after early primary palatal closure. Comparable or even better results were found in comparison with international benchmarks, especially regarding the presence of compensatory articulation. Whether this approach is transferable to Western countries is the subject for further research.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Kristina Klintö ◽  
Maria Sporre ◽  
Magnus Becker

Abstract Background When evaluating speech in children with cleft palate with or without cleft lip (CP/L), children with known syndromes and/or additional malformations (CP/L+) are usually excluded. The aim of this study was to present speech outcome of a consecutive series of 5-year-olds born with CP/L, and to compare speech results of children with CP/L + and children with CP/L without known syndromes and/or additional malformations (CP/L-). Methods One hundred 5-year-olds (20 with CP/L+; 80 with CP/L-) participated. All children were treated with primary palatal surgery in one stage with the same procedure for muscle reconstruction. Three independent judges performed phonetic transcriptions and rated perceived velopharyngeal competence from audio recordings. Based on phonetic transcriptions, percent consonants correct (PCC) and percent non-oral errors were investigated. Group comparisons were performed. Results In the total group, mean PCC was 88.2 and mean percent non-oral errors 1.5. The group with bilateral cleft lip and palate (BCLP) had poorer results on both measures compared to groups with other cleft types. The average results of PCC and percent non-oral errors in the CP/L + group indicated somewhat poorer speech, but no significant differences were observed. In the CP/L + group, 25 % were judged as having incompetent velopharyngeal competence, compared to 15 % in the CP/L- group. Conclusions The results indicated relatively good speech compared to speech of children with CP/L in previous studies. Speech was poorer in many children with more extensive clefts. No significant differences in speech outcomes were observed between CP/L + and CP/L- groups.


2012 ◽  
Vol 49 (2) ◽  
pp. 245-248 ◽  
Author(s):  
Jose G. Christiano ◽  
Amir H. Dorafshar ◽  
Eduardo D. Rodriguez ◽  
Richard J. Redett

A 6-year-old girl presented with a large recalcitrant oronasal fistula after bilateral cleft lip and palate repair and numerous secondary attempts at fistula closure. Incomplete palmar arches precluded a free radial forearm flap. A free vastus lateralis muscle flap was successfully transferred. No fistula recurrence was observed at 18 months. There was no perceived thigh weakness. The surgical scar healed inconspicuously. Free flaps should no longer be considered the last resort for treatment of recalcitrant fistulas after cleft palate repair. A free vastus lateralis muscle flap is an excellent alternative, and possibly a superior option, to other previously described free flaps.


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