An extremely rare case of Oro-facial digital syndrome: A case report.

BACKGROUND: Oro-facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X-linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations. CASE REPORT: Present case report describes a 9 year old girl patient who was mis-diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features. CONCLUSION: Not much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro-facial digital syndrome.

Cleft Lip With Ankyloblepharon Filiforme Adnatum: A Case Report.

Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors. The right eye was observed to have a fibrous adhesion in the external canthus and was excised during lip plasty. After surgery, her eyes were able to fully open, and no other apparent disease was diagnosed. AFA is thought to be caused by an ectodermal-derived developmental abnormality. Notably, cases of AFA with a cleft lip are rare. Diagnosis and surgery should be performed promptly to minimize any risk of amblyopia and for the early detection of congenital diseases, including glaucoma.

Itinerário terapêutico de crianças com fissura labiopalatina / Itinerario terapéutico del niño con labio y paladar hendido / Therapeutic itinerary of children with cleft lip and palate

Resumo Objetivo conhecer o itinerário terapêutico de crianças com fissuras de lábio e/ou palato. Método estudo descritivo de natureza qualitativa realizado com famílias de crianças com fissura labiopalatina. A coleta de dados ocorreu entre junho e julho de 2022 por meio de entrevistas semiestruturadas, e aplicou-se a análise de conteúdo temática. Resultados participaram oito famílias e emergiram três categorias: I) Enfrentando o desconhecido: diagnóstico de fissura labiopalatina na criança - notaram-se sentimentos de choque, medo e incerteza que permeiam durante o diagnóstico precoce ou tardio; II) Um caminho árduo: pausas e recomeços durante o itinerário terapêutico - observou-se que as famílias percorreram caminhos diferentes devido à especificidade da configuração familiar e da própria fissura; III) Tecendo a rede de apoio para o cuidado - mostrou-se ser de extrema necessidade o apoio dos amigos, família, profissionais e instituições de saúde. Conclusões e implicações para prática o itinerário terapêutico de crianças com fissura labiopalatina é árduo e acompanhado de desafios, que se iniciam no diagnóstico e permanecem após o nascimento. Espera-se que os resultados deste estudo suscitem o diálogo entre os profissionais de saúde e se familiarizem com as necessidades dessa população e possam atuar nos diferentes pontos de atenção à saúde.

Resumen Objetivo conocer el itinerario terapéutico de los niños con labio hendido y/o paladar hendido. Método estudio cualitativo descriptivo realizado con familias de niños con labio y paladar hendido. La recolección de datos se realizó entre junio y julio de 2022 mediante entrevistas semiestructuradas, y se aplicó análisis de contenido temático. Resultados participaron ocho familias y surgieron tres categorías: I) Frente a lo desconocido: diagnóstico de labio y paladar hendido en niños: se observaron sentimientos de shock, miedo e incertidumbre que permean durante el diagnóstico temprano o tardío; II) Un camino arduo: pausas e inicios durante el itinerario terapéutico - se observó que las familias siguieron caminos diferentes debido a la especificidad de la configuración familiar y de la propia hendidura; III) Tejer la red de apoyo para la atención: el apoyo de amigos, familiares, profesionales e instituciones de salud resultó ser extremadamente necesario. Conclusiones e implicaciones para la práctica el itinerario terapéutico de los niños con labio y paladar hendido es arduo y está acompañado de desafíos, que comienzan desde el diagnóstico y continúan después del nacimiento. Se espera que los resultados de este estudio fomenten el diálogo entre los profesionales de la salud y conozcan las necesidades de esta población y puedan actuar en los diferentes puntos de la atención en salud.

Abstract Objective to understand the therapeutic itinerary of children with cleft lip and/or palate. Method a descriptive qualitative study carried out with families of children with cleft lip and palate. Data collection took place between June and July 2022 through semi-structured interviews, and thematic content analysis was applied. Results eight families participated and three categories emerged: I) Facing the unknown: diagnosis of cleft lip and palate in children - feelings of shock, fear and uncertainty were noted that permeate during early or late diagnosis; II) An arduous path: pauses and beginnings during the therapeutic itinerary - it was observed that the families followed different paths due to the specificity of the family configuration and the cleft itself; III) Weaving the support network for care - support from friends, family, professionals and health institutions proved to be extremely necessary. Conclusions and implications for practice the therapeutic itinerary of children with cleft lip and palate is arduous and followed by challenges, which begin at diagnosis and continue after birth. It is hoped that the results of this study will encourage dialogue among health professionals and become familiar with the needs of this population and be able to act at different points of health care.

[Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome]. / Ectrodactylia, ectodermalis dysplasia, ajak- és szájpadhasadék szindróma.

The ectrodactyly-ectodermal dysplasia-clefting syndrome is an extremely rare genetic disorder that is inherited as an autosomal dominant trait, but can also occur sporadically. It is characterized by the triad of ectrodactyly (absence of fingers), ectodermal dysplasia and cleft lip and palate along with variable involvement of other organs. Both the ectodermal and mesodermal tissues may be affected resulting in a spectrum of phenotypes. Early diagnosis and treatment signify a unique challenge for those involved in the clinical management, while enable counseling and preparation of parents for the tasks ahead of them. In our report, we describe the case of a patient with sporadic EEC syndrome. In addition to the presentation of the complex phenotype along with the medical interventions, we summarize the most important characteristics of the disease, the diagnostic and therapeutic possibilities as well as the clinical significance of the accurate genetic verification. Using whole exome sequencing, we identified in the 3q28 chromosomal region a pathogenic mutation within the TP63 gene previously linked to the EEC3 phenotypes. The knowledge of pathogenic mutation provides the means to prenatal diagnostics or in vitro fertilization methods that allows us to minimize the possibility of inheriting the syndrome in the patient's offspring. By presenting our case, we aim to draw attention to this rare and disabling disease that requires the high quality works of a multidisciplinary team capable of ensuring good quality of life for the patient. Orv Hetil. 2023; 164(46): 1831-1837.

[Studies of sleep and therapeutic actions in children and adolescents with craniofacial anomalies]. / Estudios de sueño y conducta terapéutica en niños y adolescentes con alteraciones craneofaciales.

OBJECTIVE: To describe the presence of obstructive sleep apnea syndrome (OSAS) in children with craniofacial anomalies (CFA), associate biodemographic characteristics and polygraph variables, and analyze the therapeutic management decided after the sleep study and the evaluation by a multidisciplinary team. PATIENTS AND METHOD: Retrospective study. Polygraphs were performed on patients aged between 1 month and 19 years with CFA. An initial and projected management was established categorized into ventilatory support, tracheostomy, surgery, dental, and medical treatment. Descrip tive and inferential statistics were performed, evaluating the association between demographic and polygraph variables and therapeutic management. RESULTS: 34 patients were included with a median age of 4.0 years (IQR 0.9 - 6.5). Diagnosis was 41.2% cleft lip and palate, 35.3% craniosynostosis, and 23.5% micrognathia. Polygraphs were altered in 70.6% of the cases; of these, 26.5% were diagnosed as mild, 5.9% moderate, and 38.2% severe OSAS. There was an association between minimum satu ration and diagnosis of OSAS (p = 0.0036), and in the presence of OSAS with the initial management applied (p=0.0013). There was no significant relationship between the different types of CFA with the initial therapeutic management (p = 0.6565). Initial and projected managements, respectively: Venti latory support (11.8% and 2.9%), tracheostomy (11.8% and 0%), surgery (35.2% and 26.5%), dental (20.6% and 53%), and medical treatment (20.6% and 17.6 %). CONCLUSIONS: 70% of the patients with CFA presented OSAS. The greatest severity was found in Cleft Lip and Palatine and Craniosynostosis. Therapeutic management was mainly oriented towards initial surgical and planned dental treatments based on the diagnosis of OSAS and not on the type of CFA.

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.

OBJECTIVE: Describe and compare the results of speech and velopharyngeal function in children with classic and occult submucous cleft palate undergoing interdisciplinary treatment at the Gantz Foundation. METHODS: The clinical history of all patients born between 2012 and 2017 with a diagnosis of classic or occult submucous cleft palate was retrospectively reviewed. Preoperative and postoperative medical, surgical, and speech and language history were collected. RESULTS: Twenty-eight cases diagnosed at the age of 44.8±23.9 months were included. Of these, 71.4% presented classic submucous cleft, and 28.6% occult. Before primary surgery, 7.1% had a diagnosis of the syndrome, and 21.4% were under study. A total of 39.3% had hearing difficulties and 21.4% used tympanic ventilation tubes. A total of 60.7% had language problems, 39.3% had compensatory articulation, 17.9% had absent hypernasality, and 21.4% had absent nasal emission. The team indicated primary palate surgery in 71.4%, of which 85% performed the surgery at the mean age of 61.7±24.7 months. The surgical technique was Furlow in 88.2% of the cases and intravelar veloplasty in the remaining 11.8%. Then, 3 cases underwent velopharyngeal insufficiency surgery; 2 of them eliminated hypernasality and reduced nasal emission. The age of diagnosis ( P =0.021) and the performance of velopharyngeal insufficiency surgery ( P =0029) of the occult submucous cleft palate group was significatively later than the classic cleft palate group. CONCLUSIONS: Language, hearing, compensatory articulation, hypernasality, and nasal emission problems were recorded. A high percentage required primary surgery. Of these, a low proportion also required a velopharyngeal insufficiency surgery, which improved the velopharyngeal function of the children but did not completely adapt it. In this regard, early diagnosis is essential, as well as an analysis of each center primary closure protocol.

Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis. Mutation analysis of the TP63 gene detected a de novo missense mutation in exon 14 (c.1799G>T; p.Gly600Val). We discuss the phenotype-genotype correlation by presenting the clinical features of AEC in the patient, and the effect of the detected mutation in p63 structure and function using protein structural modeling, in view of similar cases in the literature. We performed a molecular modeling study in order to link the effect on the protein structure level of the missense mutation G600V. We noted that the introduction of the bulkier Valine residue in place of the slim Glycine residue caused a significantly altered 3D conformational arrangement of that protein region, pushing away the adjacent antiparallel α helix. We propose that the introduced locally altered structure of the G600V mutant p63 has a significant functional effect on specific protein-protein interactions, thus affecting the clinical phenotype.

Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment.

PURPOSE: Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder. We present ocular findings and their treatment in patients with EEC. METHODS AND RESULTS: We report on 3 female patients (aged 59, 45, and 11 years) suffering from EEC with varying extraocular and ocular severity of phenotypic expression of the disease. Slit-lamp biomicroscopy, visual acuity, and medical treatment were evaluated over 4 months to 4 years. All patients experienced visual impairment and foreign body sensation. Examination revealed bilateral chronic blepharitis, dry eye syndrome, and corneal vascularization and clouding due to limbal stem cell deficiency (LSCD). Patient #1 presented a corneal ulcer with severe stromal thinning on the right eye. Allogeneic simple limbal epithelial transplantation (allo SLET), penetrating keratoplasty combined with allo SLET, and in total 5 amniotic membrane transplantation were performed to preserve the integrity of the eye. In patients #2 and #3, conservative therapy with lubricant eye drops, topical steroids, and antibiotics was sufficient to stabilize LSCD. In all cases, corneal epithelialization and improvement of visual acuity were achieved. CONCLUSIONS AND IMPORTANCE: To the best of our knowledge, this is the first report of surgical treatment in a patient with EEC. Allo SLET may be a surgical option to treat LSCD associated with EEC.

A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?

EEC syndrome is an autosomal dominant genetic disease with incomplete penetrance characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate; these manifestations can differently occur in the affected subjects and can also be associated with other anomalies, such as in the urogenital tract.We reported the case of a newborn with prenatal diagnosis of EEC type 3 associated with severe cardiac abnormalities (Tetralogy of Fallot), high esophageal atresia with fistula and penoscrotal hypospadias.

Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.

ABSTRACT: This case report highlights the unique application and long-term benefits of customized scleral devices in a patient with ocular complications from ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome over the span of 10 years. A 13-year-old girl with a history of EEC syndrome and ocular manifestations, including severe bilateral dry eye disease, corneal neovascularization and scarring, progressive fibrous pannus, and limbal stem cell deficiency, was examined and fitted with scleral devices. The goal of treatment was to stabilize the ocular surface, enhance vision, and improve ocular comfort. Throughout the course of treatment, there was minimal progression in ocular signs, despite interruptions in scleral device wear from application and removal challenges secondary to ectrodactyly. Customized scleral devices provided an optimal environment to support the ocular surface, improve comfort, and improve visual acuity. Further studies are required to demonstrate the benefits of scleral devices in larger populations of patients with EEC syndrome.

[Cleft lip and palate : One of the most frequent congenital malformations]. / Lippen-Kiefer-Gaumen-Spalte : Eine der häufigsten angeborenen Fehlbildungen.

With a frequency of 1 per 500 live births, a cleft lip and palate is one of the most frequent congenital malformations. Untreated, it leads to disturbances in feeding, speech, hearing, tooth position and esthetics. A multifactorial genesis is assumed. The fusion of the different facial processes takes place in the first 3 months of pregnancy and a cleft can develop during this time. Surgical treatment includes the early anatomical and functional restoration of the affected structures within the first year of life in order to enable normal intake of food, articulation, nasal breathing and middle ear ventilation. Breastfeeding is possible in children with a cleft formation but alternative feeding methods, such as finger feeding, often have to be used. In addition to the surgery for primary closure of the cleft, otorhinolaryngological (ENT) interventions, speech therapy, orthodontic treatment as well as other surgical interventions are part of the interdisciplinary treatment concept.

Additional diagnoses in children with cleft lip and palate up to five years of age.

Cleft lip and palate (CL/P) is the most common congenital craniofacial malformation and is often associated with additional diagnoses. The purpose of this study was to explore the cumulative five-year incidence of additional diagnoses for patients with cleft lip and palate. Further aims were, type of cleft and type of additional diagnose and to validate CLP registry data on additional diagnoses. Data from the CLP registry regarding children with CL/P in the Southern Health Care Region were retrieved and based on the registry, participants were selected. A review of medical records of participants born 2006-2016 was performed and data regarding participant characteristics and additional diagnoses were collected. Of the 250 participants included in the review of medical records, 90 participants (36%) had an additional diagnosis. Of the total number of identified additional diagnoses (n = 137), cardiovascular system (20.4%) and extremities and skeletal system (17.5%) were the most prevalent categories. The comparison between medical records and the CLP registry of all children showed a 14.4 percentage points higher incidence of additional diagnoses in the medical records. Roughly every third child received an additional diagnosis and diagnoses related to the cardiovascular system were the most frequent. This study also shows that additional diagnoses were under-reported in the CLP registry. Future research is necessary to strengthen associations of additional diagnoses to CL/P.

Maxillary arch dimensions, occlusion assessment and space conditions in patients with cleft palate in the period of deciduous dentition-A retrospective study.

PURPOSE: The aim of this study was to evaluate the maxillary arch dimensions, dentoalveolar relationships and spacing conditions in patients with cleft palate in comparison with the control group. METHODS: The subjects consisted of 31 children with cleft palate only (CP) aged 5.5 ± 0.51 (20 with a cleft of hard and soft palate (SHPC group) and 11 with a cleft of soft palate only (SPC group)). In the control group 30 subjects had a normal occlusion at age 5. Maxillary arch dimensions, dentoalveolar relationship according to the Huddard Bodenham index (HBI) and space conditions were compared with the control group. RESULTS: In all variables of maxillary arch dimensions except for total arch height the control group exhibited greater values. Most of the significant differences were on account of differences between the control and the SHPC group, with only three comparisons yielding significant results when comparing the two groups of children with clefts (SHPC vs SPC, IV-IV central: pDunnett T3= 0.0002, 95%CIDifference=-9.9-(-3.18); V-V distopalatal cusps: pDunnett T3= 0.0002, 95%CIDifference=-9.97-(-3.17); Total arch length: pDunnett T3= 0.0014, 95%CIDifference=1.74-7.85). The three groups differed significantly in anterior HBI only (HKruskal-Wallis=15.56, p = 0.0067). The spacing conditions in both jaws were also shown to be significantly dependent on the group of subjects studied (Upper jaw: χ2omnibus= 16.79, p = 0.0018; lower jaw: χ2omnibus= 13.75, p = 0.0102). CONCLUSIONS: The growth of the upper dental arch at the age of five is impeded in participants with CP in comparison to a control group. It is important to assess the effect of cleft subtypes on growth and development to get a better understanding.

Endoscopic evaluation of velopharyngeal function in cleft lip palate patients - A correlation with speech analysis.

BACKGROUND: Speech abnormalities due to velopharyngeal insufficiency (VPI) significantly affect communication skills, self-esteem, and scholastic performance. It leads to a poor social, emotional, educational, and behavioral development and a poor quality of life overall in cleft lip palate (CLP) patients. Its early diagnosis and severity assessment using video-nasoendoscopy and speech assessment can significantly contribute to management. The present study evaluated VPI in CLP patients using both tools. METHODS: A total of 48 patients with repaired cleft palate were subjected to speech and video-nasoendoscopic assessment. Speech assessment measured severity of hypernasality, speech intelligibility, and voice quality. Video-nasoendoscopy evaluated velopharyngeal port closure to grade the severity of VPI. The speech assessment and video-nasoendoscopy findings were analyzed and correlated. RESULTS: There was a moderately strong statistically significant negative correlation between the grade of VPI and hypernasality (r = -0.542, p = 0.000). There was a stronger statistically significant negative correlation of grade of velopharyngeal port insufficiency with speech intelligibility (r = -0.634, p = 0.000). About 72% of the patients had abnormal voice quality. CONCLUSION: This study is the first attempt at diagnosing and grading VPI on a quantitative scoring based on a ratio scale for the motion of soft palate and pharyngeal walls. The strong correlation between endoscopic grading and speech analysis findings warrants further evaluation of nasoendoscopic grading of VPI in more studies.

Submucous Cleft Palate (SMCP): Indications and Outcomes of Radical Muscle Dissection Palatoplasty in Children Under 4 Years of Age.

To delineate the indications, referral sources and outcomes of radical muscle dissection palate repair in the first 4 years of life for patients with submucous cleft palate (SMCP).This study presents a retrospective analysis of a single surgeon's management.All children were treated at Great Ormond Street Hospital, United Kingdom.Twenty-three children with nonsyndromic SMCP were included in this study.All participants underwent radical muscle dissection repair before their fourth birthday.Parameters analyzed included: referral sources, indications for referral, extent of anatomical abnormality, and postoperative outcomes.Paediatricians provided the largest proportion of referrals to the cleft lip and palate clinic (39%) due to the presence of cleft lip/palate on prenatal scans or during neonatal examination. Over half (n = 12, 52%) of patients had severe anatomical anomalies being in grade IV (score 8-9), with the classical triad present to some extent in all but 2 of the patients. The main indication for surgery was nasal regurgitation of food and liquid (n = 9, 35%) followed by hypernasality (n = 6, 21%), difficulty feeding (n = 3, 8%), and severe anatomical defect (n = 2; 4%). Postoperatively, the presenting complaint improved in the majority of cases.Nonsyndromic SMCP is often missed, though may present with nasal regurgitation, feeding problems, and/or hypernasality, though may be missed in nonsyndromic children. Early radical muscle dissection repair in the first 4 years of life is safe and effective, facilitating normal speech development.

Adult Cleft Patients: An Exploration of Functional Needs and Treatment Barriers.

BACKGROUND: Management of cleft lip and palate has been well characterized in pediatric patients, but limited data exist regarding the long-term functional outcomes of cleft patients once they reach adulthood. MATERIALS AND METHODS: An institutional, cross-sectional survey of adult patients with a history of cleft lip and/or palate was performed. The survey recorded patient characteristics, concerns, and barriers to care. Patient-reported outcome measures were assessed using the Nasal Obstruction Symptom Evaluation Scale, Epworth Sleepiness Scale, Mandibular Function Impairment Questionnaire, and the CLEFT-Q Speech Modules. RESULTS: A total of 63 patients (18.2%) participated in the survey. The mean patient age was 43.7 years (median: 41 y, range: 19-93 y), and the most common diagnosis was cleft lip and palate (51%) followed by isolated cleft palate (35%) and isolated cleft lip (14%). A subset of patients scored with moderate to severe dysfunction on each outcome measure including the Nasal Obstruction Symptom Evaluation Instrument (59%), Epworth Sleepiness Scale (7%), and Mandibular Function Impairment Questionnaire (13%). Respondent scores on the CLEFT-Q Speech modules demonstrated a bimodal distribution with lower scores in a significant subset of patients with cleft palate and cleft lip and palate. Many respondents (41%) were interested in clinical evaluation but cited barriers to seeking treatment including financial barriers (35%) or lack awareness of clinical options (27%). CONCLUSIONS: Many cleft patients have persistent needs or concerns in adulthood, especially regarding speech and nasal breathing. Systemic barriers pose challenges to these patients undergoing clinical evaluation.

Oral and dental abnormalities in Coffin Siris syndrome : A new case report.

INTRODUCTION: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer. CASE REPORT: 8-year-old boy with clinical diagnosis of CSS presented facial dysmorphism, sparse hair, a flat and wide nose, absence of nails on 3rd and 5th fingers of the right hand and 3rd and 4th fingers of the left hand, malformation of the feet, toes with nail hypoplasia. Oral and dental anomalies included : bilateral complete cleft lip and palate, delayed eruption of permanent teeth, presence of supernumerary tooth and taurodontism in the first permanent molars. CONCLUSION: Early diagnosis of oral problems and regular follow-up in dentist are necessary to promote good oral health and improve the patient's quality of life.

Cleft palate-lateral synechiae syndrome: a case report.

Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.

Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome.

Orofaciodigital syndrome type 1 (OFDS1) is a genetic disorder characterized by specific oral, facial, and limb malformations. A 14-month-old girl with congenital cleft palate, lower lip midline cleft, and digital anomalies admitted to our hospital was preliminarily diagnosed with OFDS1. Genetic analysis revealed that she carried a heterozygous variant of OFD1 at locus Xp22.2 on the X chromosome. Herein, we present the specific phenotype and genotype and the treatment modalities for this patient and references for diagnosing and treating OFDS.

[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report]. / Encéphalocèle occipitale et anomalies associées: colobome palpébral bilatéral, fente labio-palatine bilatérale et bride amniotique sur la jambe droite avec absence des orteils sur pieds droit et gauche aux Cliniques Universitaires du Graben Butembo 2021 (à propos d'un cas).

Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.