Hereditary Cleft Lip/Palate and Wilms Tumor: A Rare Association

2002 ◽  
Vol 39 (3) ◽  
pp. 376-379 ◽  
Author(s):  
Chung-Chih Yu ◽  
Fen-Hwa Wong ◽  
Lun-Jou Lo ◽  
Yu-Ray Chen
Keyword(s):  
Cleft Lip ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Surgical Excision ◽  
Abdominal Tumor ◽  
Facial Cleft ◽  
Rare Association ◽  
Two Generations ◽  
Cleft Lip Palate ◽  
History Of

Objective: The association of cleft lip/palate (CLP) with other anomalies is not uncommon, but its association with Wilms tumor (WT) is very rare, especially in a familial pattern. In this report, we present a family in which six members in two generations were affected with CLP, WT, or both. Patients and Results: A male patient presented with right complete CLP. He had a family history of facial cleft and abdominal tumor. Lip repair was performed at 3 months of age. An abdominal mass was noticed at 12 months of age, which proved to be WT. Surgical excision of the tumor and chemotherapy were conducted. He subsequently underwent palate repair. His father had an unrepaired microform cleft lip. Three of his aunts were known to have similar problems: one had both facial cleft and WT, one had WT only, and the other had facial cleft only. One of his cousins also was affected with WT. Conclusions: This is a unique family affected with a rare association of CLP and WT. Pedigree study revealed an autosomal dominant hereditary pattern.

Hereditary Cleft Lip/Palate and Wilms Tumor: A Rare Association

2002 ◽  
Vol 39 (3) ◽  
pp. 376-379 ◽  
Author(s):  
Chung-Chih Yu ◽  
Fen-Hwa Wong ◽  
Lun-Jou Lo ◽  
Yu-Ray Chen
Keyword(s):  
Cleft Lip ◽  
Wilms Tumor ◽  
Rare Association ◽  
Cleft Lip Palate

scholarly journals Diagnosis and management of a case of retroperitoneal eosinophilic sclerosing fibroplasia in a cat

2019 ◽  
Vol 5 (2) ◽  
pp. 205511691986717
Author(s):  
Maureen E Thieme ◽  
Anastasia M Olsen ◽  
Andrew D Woolcock ◽  
Margaret A Miller ◽  
Micha C Simons
Keyword(s):  
Abdominal Mass ◽  
Clinical Signs ◽  
Surgical Excision ◽  
Clinical Findings ◽  
Peripheral Eosinophilia ◽  
Aerobic Culture ◽  
Complete Surgical Excision ◽  
History Of ◽  
Amoxicillin Clavulanic Acid ◽  
The Masses

Case summary A 4-year-old neutered male cat was presented with a 2-month history of intermittent constipation that progressed to obstipation. Primary clinical findings included a large, multi lobulated mass in the caudodorsal abdomen, peripheral eosinophilia and hyperglobulinemia. Abdominal imaging revealed a multilobulated, cavitated mass in the sublumbar region. Exploratory celiotomy revealed multiple firm masses in the sublumbar retroperitoneal space causing ventral displacement and compression of the descending colon with extension of the masses into the pelvic canal. Histopathology was consistent with feline gastrointestinal eosinophilic sclerosing fibroplasia (FGESF). Aerobic culture was positive for Staphylococcus aureus. The cat was treated with prednisolone (2 mg/kg PO q24h), lactulose (0.5 g/kg PO q8h), amoxicillin/clavulanic acid (62.5 mg/cat PO q12h for 1 month) and fenbendazole (50 mg/kg PO q24h for 5 days). Six months postoperatively, the cat had no recurrence of clinical signs. Repeat evaluation and imaging at day 732 postoperatively revealed marked improvement of the abdominal mass, resolution of peripheral eosinophilia and no clinical signs with continued prednisolone therapy (0.5 mg/kg PO q24h). Relevance and novel information This is a report of a primary extramural FGESF lesion, and the first description of characteristics of FGESF on CT. Previous evidence suggests that the most favorable outcomes require immunosuppressive therapy and complete surgical excision; however, this case demonstrates a favorable outcome with medical management alone.

scholarly journals Incidence of Orofacial Clefts in Kumasi, Ghana

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin
Keyword(s):  
Cleft Palate ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Orofacial Clefts ◽  
Female Ratio ◽  
Live Births ◽  
Male Female Ratio ◽  
Cleft Lip Palate ◽  
History Of

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.

scholarly journals Assessment of role of consanguinity in formation of cleft lip and cleft palate

2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Chi Square ◽  
Consanguineous Marriages ◽  
Cleft Lip Palate ◽  
Chi Square Test ◽  
History Of ◽  
Autosomal Recessive Diseases

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.

Siamese Twins With Craniofacial Duplication and Bilateral Cleft Lip/Palate in a Ceramic Representation of the Chimú Culture (Peru): A Comparative Analysis With a Current Case

2014 ◽  
Vol 17 (3) ◽  
pp. 211-214 ◽  
Author(s):  
Harry Pachajoa ◽  
Maria F. Hernandez-Amaris ◽  
Gloria Liliana Porras-Hurtado ◽  
Carlos A. Rodriguez
Keyword(s):  
Comparative Analysis ◽  
Cleft Lip ◽  
Medical Literature ◽  
Conjoined Twins ◽  
Current Case ◽  
Facial Cleft ◽  
Bilateral Cleft Lip ◽  
Cleft Lip Palate ◽  
Rare Malformation ◽  
A Current

Craniofacial duplication or diprosopus is a very rare malformation that is present in approximately 0.4% of conjoined twins. Here is presented a case of craniofacial duplication in association with bilateral cleft lip/palate in both heads found in a ceramic representation from the early Chimú culture from Peru. A comparative analysis is made with a current case of a 28-week-old fetus with similar characteristics. After reviewing the medical literature on conjoined twins, very few reports of facial cleft in both twins were found, with no reports at all of bilateral cleft lip/palate. This ceramic crock is considered one of the first representations suggestive of craniofacial duplication, and probably the first reporting it in association with facial cleft.

scholarly journals Sella Turcica Bridging and its Association with Dental Anomalies

2021 ◽  
Vol 15 (1) ◽  
pp. 473-478
Author(s):  
Divya Siddalingappa ◽  
Arun S. Urala ◽  
Kalyana C. Pentapati ◽  
Ravindranath Vineetha ◽  
G. Lakshmi Prasad
Keyword(s):  
Cleft Lip ◽  
Morphological Changes ◽  
Sella Turcica ◽  
Control Group ◽  
Study Group ◽  
Patient Records ◽  
Dental Anomalies ◽  
Group Type ◽  
Cleft Lip Palate ◽  
History Of

Aim: This study aimed to study the overall incidence of DA and its association with Sella Turcica bridging (STB). Background: Dental anomalies (DA) are associated with morphological changes in the Sella Turcica (ST). Materials and Methods: We retrieved the pretreatment patient records from March 2018 - March 2020 from the archives of the Orthodontics Department (n=806). We excluded the records with missing radiographs, concomitant cleft lip/ palate, history of surgical repair of cleft lip/ palate or any other craniofacial anomaly, history of trauma, and prior orthodontic treatment. A total of 676 patient records were included for initial screening, out of which 103 patients had DA (study group). A similar number of records (n=103) without any DA were randomly selected to constitute a control group. Determination of the extent of STB was done by calibrated and trained examiner. Age and sex were also recorded. Results: The incidence of DA was 15.24%. The most common anomalies recorded were impacted canines (6.8%) and hyperdontia (3.7%), followed by agenesis (2.1%) and others. Type III bridging in patients with DA was 22.3%, while being 9.7% in the control group. Type II bridging was observed in 36.8% of patients with DA as compared to 29.1% in the control group. The presence of partial and complete STB in patients with dental anomalies was significantly higher than in the control group (P=0.006). The study group showed significant association with STB (OR: 2.33; P=0.003; 95%CI: 1.33-4.11) after adjusting for sex. Conclusion: The results of our study revealed a significant association between STB and DA.

Clinical and Genetic Features of Van der Woude Syndrome in Two Large Families in Brazil

2007 ◽  
Vol 44 (3) ◽  
pp. 239-243 ◽  
Author(s):  
Hercílio Martelli-Junior ◽  
Marcelo Reis Chaves ◽  
Mário Sérgio Oliveira Swerts ◽  
Roseli Teixeira de Miranda ◽  
Paulo Rogério Ferreti Bonan ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Van Der Woude Syndrome ◽  
Gender Distribution ◽  
Two Generations ◽  
Genetic Features ◽  
Cleft Lip Palate ◽  
Large Families ◽  
Unique Association

Objective: This report describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil, emphasizing the range of anomalies found within and between the families. Patients: Family 1 included 54 descendants spanning five generations, with 12 (22.23%) individuals manifesting Van der Woude syndrome. In family 2, examinations comprised 17 descendants distributed over four generations, and 8 (47.06%) people presented features of Van der Woude syndrome. Results: In family 1, the first two generations were not affected, but the other three generations had affected members showing a unique association of lip pits and cleft lip/palate with equilibrated gender distribution. In family 2, all generations were affected, and the clinical expression of disease was heterogeneous, including members with isolated clefts, isolated lip pits, and association of cleft lip/palate with lip pits. In both families, affected members transmitted their traits to descendants in an autosomal dominant mode of inheritance with apparent low penetrance in family 1, but high penetrance in family 2. Patients were treated surgically by cheiloplasty and/or palatoplasty with satisfactory results. Conclusions: Van der Woude syndrome was transmitted by an autosomal dominant pattern with variable expressivity and penetrance and equilibrated gender distribution. Physicians should be aware of the variety of malformations that can be associated with Van der Woude syndrome. Genetic counseling in Van der Woude syndrome affected families is important, because a high percentage of descendants can have some kind of clefting.

The Rare Association of Cleft Lip and/or Palate and Wilms Tumor

2019 ◽  
Vol 56 (8) ◽  
pp. 1096-1106
Author(s):  
Elizabeth Theng ◽  
Meghan Tracy ◽  
Susan Starling Hughes ◽  
Alison Kaye
Keyword(s):  
Partial Nephrectomy ◽  
Retrospective Review ◽  
Congenital Anomalies ◽  
Cleft Lip ◽  
Developmental Delays ◽  
Wilms Tumor ◽  
Rare Association ◽  
Full Remission

There is currently no recognized connection between the occurrence of cleft lip and/or palate (CL/P) and Wilms tumor (WT). A retrospective review of cleft team records (2001-2015) revealed 3 cases of children, all male, with concomitant diagnoses of CL/P and WT treated at our institution. These patients presented as infants for care of their CL/P, all with additional congenital anomalies, developmental delays, and growth delays. Between the ages of 1 and 4 years, each was diagnosed with WT, which was treated with chemotherapy and partial nephrectomy, +/− radiation, leading to full remission in all cases.

scholarly journals Bilateral Nephroblastoma with Dilated Cardiomyopathy as an Indication for Off-Protocol Treatment: A Case Report

2020 ◽  
Vol 17 (24) ◽  
pp. 9483
Author(s):  
Patrycja Sosnowska-Sienkiewicz ◽  
Ewelina Gowin ◽  
Katarzyna Jończyk-Potoczna ◽  
Przemysław Mańkowski ◽  
Jan Godziński ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Cancer Diagnosis ◽  
Wilms Tumor ◽  
Abdominal Mass ◽  
Abdominal Tumor ◽  
Severe Condition ◽  
Heart Performance ◽  
Patients With Heart Failure ◽  
Abdominal Compartment ◽  
Bilateral Wilms Tumor

Patients with a Wilms tumor are often admitted to the hospital accidentally, with an abdominal mass causing asymmetry of the abdominal wall. Hypertension accompanying a Wilms tumor occurs in about 10–27% of children, but cardiomyopathy associated with a Wilms tumor is very rarely described. This publication presents a case of a 9-month-old girl with a bilateral Wilms tumor accompanied by dilated cardiomyopathy since her initial cancer diagnosis, as well as her off-protocol treatment. The severe condition of the child forced the application of off-protocol treatment, i.e., accelerated resection of a larger tumor, which enabled the improvement of heart performance and made subsequent therapy possible. In the course of the presented treatment, a gradual normalization of cardiac ventricular function and contractility was observed. In conclusion, a massive abdominal tumor associated with abdominal compartment syndrome compromised the functioning of the cardiovascular system in the young child. Therefore, earlier removal of Wilms tumors in patients with heart failure should be considered. This may result in the improvement of cardiovascular function and the possibility of further therapy.

scholarly journals Risk Factors of Congenital Anomalies in South Sumatera Indonesia

2020 ◽  
Vol 4 (4) ◽  
pp. 60-69
Author(s):  
Ziske Maritska ◽  
Theofilus Aswadi
Keyword(s):  
Risk Factors ◽  
Passive Smoking ◽  
Congenital Anomalies ◽  
Neonatal Death ◽  
Cleft Lip ◽  
Circulatory System ◽  
Maternal Diabetes ◽  
Cross Sectional ◽  
Cleft Lip Palate ◽  
History Of

Abstract   Introduction. Congenital anomaly is one of the leading causes of neonatal death. It is the third leading cause of neonatal death in Indonesia. More than half of all congenital anomalies can’t be related to a specific cause, suggesting multiple risk factors. This study aims to identify patterns and risk factors of congenital anomalies in RSUP Dr. Mohammad Hoesin Palembang. Methods. This observational descriptive study with a cross-sectional design used 100 patients’ medical records, taken at RSUP Dr. Mohammad Hoesin Palembang, as samples. Missing data were complemented with a phone interview. Samples were picked using a proportional random sampling method. Collected data were counted within each category of congenital anomalies. Results. There were 366 neonatal patients diagnosed with congenital anomalies at RSUP Dr. Mohammad Hoesin Palembang in 2015. The most prevalent (44,8%) congenital anomalies belonged to congenital anomalies of the digestive system, followed by congenital anomalies of the circulatory system (18,6%), and cleft lip/palate (11,5%). Following risk factors were found: the history of maternal active or passive smoking (41%), maternal exposure to chemicals or solvents (31%), family member with congenital anomalies of the same category (27%), maternal drug consumption (26%), maternal infection (22%), maternal diabetes mellitus (4%), and maternal hypertension (4%). Conclusion. History of maternal active or passive smoking was the most frequently found risk factors among patients of congenital anomalies.

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