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Laryngoscope ; 131(4): 916-920, 2021 04.
Article En | MEDLINE | ID: mdl-32846011

OBJECTIVES/HYPOTHESIS: We aimed to analyze the clinical characteristics and introduce a new subclassification system for type II first branchial cleft anomalies (FBCAs) based on magnetic resonance imaging (MRI) findings. STUDY DESIGN: Retrospective cases study. METHODS: We conducted an analysis of data from patients with type II FBCAs. MRI findings were used to categorize FBCAs into three subtypes. FBCAs located between the subcutaneous tissue and parotid were classified as type IIa. FBCAs located between the deep and superficial lobes of the parotid were classified as type IIb. FBCAs located between the parotid and the carotid sheath were classified as type IIc. RESULTS: Patients with type II FBCAs were classified as type IIa, IIb, and IIc in 14, 14, and seven cases, respectively. Type IIa lesions exhibited a close relationship with the facial nerve in 42.9% of cases. In these cases, the main trunk of the facial nerve adhered to the lesion and was located superficially to the FBCA. In all patients with type IIb lesions, the main trunk and marginal mandibular branch of the facial nerve adhered to the lesion. The main trunk of the facial nerve adhered to the lesion in one patient with a type IIc. There was no relationship between the lesion and the facial nerve in the remaining type IIc cases. CONCLUSIONS: MRI can be used to identify the locations of FBCA and the parotid, which can aid surgeons in predicting the relationship between the lesion and the facial nerve. It is feasible to classify type II FBCAs into three subtypes based on MRI. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:916-920, 2021.

Branchial Region/abnormalities , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/diagnostic imaging , Magnetic Resonance Imaging , Pharyngeal Diseases/classification , Pharyngeal Diseases/diagnostic imaging , Adolescent , Branchial Region/diagnostic imaging , Branchial Region/surgery , Child , Child, Preschool , Craniofacial Abnormalities/surgery , Female , Humans , Infant , Male , Pharyngeal Diseases/surgery , Retrospective Studies
Indian Pediatr ; 56(12): 1017-1019, 2019 12 15.
Article En | MEDLINE | ID: mdl-31884430

OBJECTIVE: To assess the utility of computer-aided facial analysis in identifying dysmorphic syndromes in Indian children. METHODS: Fifty-one patients with a definite molecular or cytogenetic diagnosis and recognizable facial dysmorphism were enrolled in the study and their facial photographs were uploaded in the Face2Gene software. The results provided by the software were compared with the molecular diagnosis. RESULTS: Of the 51 patients, the software predicted the correct diagnosis in 37 patients (72.5%); predicted as the first in the top ten suggestions in 26 (70.2%). In 14 patients, the software did not suggest a correct diagnosis. CONCLUSIONS: Computer-aided facial analysis is a method that can aid in diagnosis of genetic syndromes in Indian children. As more clinicians start to use this software, its accuracy is expected to improve.

Craniofacial Abnormalities/diagnostic imaging , Face/diagnostic imaging , Facies , Image Interpretation, Computer-Assisted/methods , Adolescent , Child , Child, Preschool , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/pathology , Face/pathology , Female , Fetal Alcohol Spectrum Disorders/diagnostic imaging , Fetal Alcohol Spectrum Disorders/pathology , Humans , Infant , Infant, Newborn , Male , Photography
Rev. ADM ; 76(3): 156-161, mayo-jun. 2019. ilus, tab
Article Es | LILACS | ID: biblio-1022128

Durante el crecimiento y desarrollo de la cabeza, ésta lo hace en diferentes direcciones y proporciones, habiendo un límite entre la armonía /desarmonía conocido como umbral. Se hace referencia a este concepto, la forma de escribirlo y leerlo por medio de un código que lo simboliza. Objetivo: Poner al alcance de la comunidad médica un código de lectura e identificación de fenotipos craneofaciales sindrómicos y no sindrómicos. Conclusiones: Se considera que este concepto de umbral craneofacial y su código de lectura pueden ser usados en la enseñanza e investigación de la armonía-desarmonía durante el crecimiento y desarrollo de la cabeza, resultando ser de gran utilidad en la comprensión rápida y sencilla de la lectura del fenotipo craneofacial (AU)

During the growth and development of the head, it does so in different directions and proportions, there being a limit between the harmony / disharmony known as threshold. Reference is made to this concept, the way of writing it and reading it by means of a code that symbolizes it. Objective: To put within reach of the medical community, a code of reading and identification of syndromic and non-syndromic craniofacial phenotypes. Conclusions: It is considered that this concept of a craniofacial threshold and its reading code can be used in the teaching and research of harmony / disharmony during the growth and development of the head, being very useful in the quick and easy comprehension of the reading of the craniofacial phenotype (AU)

Humans , Phenotype , Multifactorial Inheritance , Maxillofacial Development , Prognathism , Retrognathia , Cephalometry , Craniofacial Abnormalities/classification , Codes , Genetic Association Studies , Head/growth & development , Malocclusion/classification
Am J Med Genet C Semin Med Genet ; 178(4): 447-457, 2018 12.
Article En | MEDLINE | ID: mdl-30580486

Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. However, the precise genetic etiology for this rare condition remains elusive. Comparative microarray analyses of individuals with Nablus syndrome (including two mother-son pairs) reveal an overlapping 8q22.1 microdeletion, with a minimal critical region of 1.84 Mb (94.43-96.27 Mb). Whereas this deletion is present in all affected individuals, 13 individuals without Nablus syndrome (including two mother-child pairs) also have the 8q22.1 microdeletion that partially or fully overlaps the minimal critical region. Thus, the 8q22.1 microdeletion is necessary but not sufficient to cause the clinical features characteristic of Nablus syndrome. We discuss possible explanations for Nablus syndrome, including one-locus, two-locus, epigenetic, and environmental mechanisms. We performed exome sequencing for five individuals with Nablus syndrome. Although we failed to identify any deleterious rare coding variants in the critical region that were shared between individuals, we did identify one common SNP in an intronic region that was shared. Clearly, unraveling the genetic mechanism(s) of Nablus syndrome will require additional investigation, including genomic and RNA sequencing of a larger cohort of affected individuals. If successful, it will provide important insights into fundamental concepts such as variable expressivity, incomplete penetrance, and complex disease relevant to both Mendelian and non-Mendelian disorders.

Abnormalities, Multiple/classification , Abnormalities, Multiple/diagnosis , Blepharophimosis/classification , Blepharophimosis/diagnosis , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/diagnosis , Developmental Disabilities/diagnosis , Abnormalities, Multiple/therapy , Blepharophimosis/therapy , Craniofacial Abnormalities/therapy , Developmental Disabilities/classification , Developmental Disabilities/therapy , Humans , Meta-Analysis as Topic , Phenotype
Birth Defects Res ; 110(1): 72-80, 2018 01 15.
Article En | MEDLINE | ID: mdl-28949457

BACKGROUND: The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine. METHODS: Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies: Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided. RESULTS: We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. CONCLUSION: The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 110:72-80, 2018. © 2017 Wiley Periodicals, Inc.

Craniofacial Abnormalities/classification , Brazil/epidemiology , Databases, Factual , Genetic Association Studies , Humans , Registries , Software
Clin Med (Lond) ; 17(6): 552-557, 2017 Dec.
Article En | MEDLINE | ID: mdl-29196357

Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system. Common genetic conditions associated with lymphoedema include Turner syndrome and Noonan syndrome; however, there are numerous others that can be classified based on their clinical presentation and associated features. Herein we discuss how to diagnose and classify the known primary lymphoedema conditions and how best to investigate and manage this group of patients.

Lymphedema/diagnosis , Age of Onset , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , Craniofacial Abnormalities/physiopathology , Genetic Testing , Humans , Ion Channels/genetics , Lymphangiectasis, Intestinal/classification , Lymphangiectasis, Intestinal/diagnosis , Lymphangiectasis, Intestinal/genetics , Lymphangiectasis, Intestinal/physiopathology , Lymphedema/classification , Lymphedema/genetics , Lymphedema/physiopathology , Noonan Syndrome/genetics , Noonan Syndrome/physiopathology , Receptor, EphB4/genetics , Turner Syndrome/genetics , Turner Syndrome/physiopathology , Vascular Endothelial Growth Factor Receptor-3/genetics
Am J Med Genet A ; 173(12): 3136-3142, 2017 Dec.
Article En | MEDLINE | ID: mdl-29136349

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.

Abnormalities, Multiple/genetics , Agenesis of Corpus Callosum/diagnosis , Choanal Atresia/diagnosis , Craniofacial Abnormalities/diagnosis , Encephalocele/diagnosis , Face/abnormalities , Heart Defects, Congenital/diagnosis , Agenesis of Corpus Callosum/genetics , Choanal Atresia/genetics , Cohort Studies , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/genetics , Encephalocele/genetics , Encephalocele/pathology , Facial Bones/abnormalities , Female , Heart Defects, Congenital/genetics , Humans , Infant , Male , Nose/abnormalities , Phenotype , Whole Exome Sequencing
J Obstet Gynaecol ; 37(4): 421-427, 2017 May.
Article En | MEDLINE | ID: mdl-28287290

Lateral or transverse facial clefts are the most frequent of the atypical facial clefts, classified by Tessier as no. 7 clefts. Most of the cases are diagnosed at birth, while few cases are diagnosed prenatally. We report a case of prenatal ultrasound detection and three-dimensional characterisation of a lateral facial cleft at 21 weeks of gestation, which was terminated at 22 weeks. It was a transverse cleft, running through the left cheek towards the ear, along with micrognathia and mild polyhydramnios. We also present a review on classification, anatomical features and prenatal diagnosis of Tessier no. 7 cleft.

Craniofacial Abnormalities/diagnostic imaging , Ultrasonography, Prenatal/methods , Abortion, Induced , Adult , Amniocentesis , Craniofacial Abnormalities/classification , Female , Humans , Imaging, Three-Dimensional , Pregnancy
Eye (Lond) ; 31(8): 1140-1145, 2017 Aug.
Article En | MEDLINE | ID: mdl-28304389

PurposeThe objective of this study is to evaluate and grade the extent and severity of ocular involvement in Tessier number 10 cleft.Patients and methodsA retrospective, noncomparative, interventional case series was conducted between January 2006 and December 2015. Clinical data were reviewed from 59 patients (85 eyes) with Tessier number 10 clefts. Detailed medical history and ophthalmic examination of patients with a confirmed diagnosis of Tessier number 10 cleft were recorded on an itemized data collection form. Ocular manifestations were categorized as upper eyelid defect, symblepharon with cutaneous pterygium (skin growing onto the globe), corneal complications, and lower eyelid ectropion; components were evaluated and graded on a scale from 0 to 3, according to their severity.ResultsMore than half of the cases (43 eyes, 53.8%) had severe upper eyelid defect, and severe symblepharon with cutaneous pterygium were observed in 38 eyes (47.5%). Nearly half of the cases (40 eyes, 50.0%) have severe corneal complications, and lower eyelid ectropion was found in 34 eyes (42.5%). The severity of symblepharon, corneal complications, and lower eyelid ectropion were significantly correlated with the upper eyelid defect; the correlation coefficient (r) ranged from 0.844 to 0.629 (P<0.0001).ConclusionThis study presents the ocular manifestation of Tessier number 10 clefts with large-series cases, and establishes an effective grading system to evaluate Tessier number 10 clefts, which is useful for the diagnosis, treatment, and prediction of outcomes in patients with a Tessier number 10 cleft.

Conjunctival Diseases/pathology , Corneal Diseases/pathology , Craniofacial Abnormalities/classification , Eyelids/abnormalities , Adolescent , Adult , Child , Child, Preschool , Eye Abnormalities/classification , Eyebrows/abnormalities , Female , Humans , Infant , Male , Retrospective Studies , Young Adult
Eur Arch Otorhinolaryngol ; 274(3): 1231-1235, 2017 Mar.
Article En | MEDLINE | ID: mdl-27383520

Congenital nasal anomalies are rare malformations with a broad spectrum of defects. The only existing classification strictly relating to nasal anomalies was presented by Losee et al. (Plast Reconstr Surg 113(2):676-689, 2004). The aim of this paper is to propose some suggestions, based on our current knowledge and experience gained by treating our patients in the clinic, in creating a specification of patients with congenital nasal anomalies. All patients with congenital nose defects treated in our health center were selected for this study. The research was retrospective and included years from 1995 to 2015. Nasal anomaly associated with cleft lip and palate was excluded. Patients were classified into four categories of congenital nasal anomalies, according to Losee et al. CLASSIFICATION: In the period of 20 years, 191 patients with congenital nasal anomalies were treated in our health center. Type 1 defects were found in 124 patients, type 2 in 15, type 3 in 32 and type 4 in 20 patients. The nasal defect accompanying craniofacial syndrome is the most common type of nose malformation. The nose cleft is not always a part of craniofacial clefts; isolated forms of such malformations can occur. Vascular anomalies, due to different etiology, categorization and treatment, should not be recognized as nasal malformation.

Craniofacial Abnormalities , Nose Diseases/congenital , Nose/abnormalities , Respiratory System Abnormalities , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/diagnosis , Humans , Respiratory System Abnormalities/classification , Respiratory System Abnormalities/diagnosis , Retrospective Studies
JAMA Otolaryngol Head Neck Surg ; 143(2): 168-177, 2017 02 01.
Article En | MEDLINE | ID: mdl-27832265

Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition. Design, Setting, and Participants: We performed a medical chart review of patients with CHARGE syndrome and reviewed their temporal bone imaging studies at a tertiary care children's hospital affiliated with Washington University in St Louis. Two authors independently reviewed each imaging study (A.W. and K.H.). Radiologic studies, physical findings, genetic tests, and other diagnostic tests were included. Patients with no temporal bone imaging studies were excluded. Results: Eighteen children were included in this study; 13 children (72%) were male, and the mean (median; range) age of patients at the time of inner ear imaging studies was 2 years (4.5 years; 8 months to 8 years). Coloboma was present in 13 patients (72%) and choanal atresia in 5 (28%); semicircular canal anomalies were present in all patients. Additionally, 13 patients (72%) were diagnosed as having hindbrain anomalies, 17 (94%) as having endocrine disorders, 17 (94%) as having mediastinal organ malformations, and all as having middle or external ear abnormalities and development delay. Cleft lip and cleft palate were found in 6 of 14 patients (43%) who did not have choanal atresia. We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. Conclusions and Relevance: Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. Given the high prevalence of semicircular canal hypoplasia and importance of imaging for diagnosing CHARGE syndrome, we propose changing the term CHARGE syndrome to 3C syndrome to emphasize the importance of the semicircular canals and to recall the 3 major criteria for diagnosis: coloboma, choanal atresia, and semicircular canal anomaly. The nomenclature would also reference the 3 semicircular canals in each ear. This new name for CHARGE syndrome would provide a mnemonic and focus the disease on the most important clinical criteria for diagnosis.

Abnormalities, Multiple/diagnosis , CHARGE Syndrome/diagnosis , Craniofacial Abnormalities/diagnosis , Dandy-Walker Syndrome/diagnosis , Heart Septal Defects, Atrial/diagnosis , Semicircular Canals/abnormalities , Abnormalities, Multiple/classification , Abnormalities, Multiple/genetics , CHARGE Syndrome/classification , CHARGE Syndrome/genetics , Child , Child, Preschool , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/genetics , Dandy-Walker Syndrome/classification , Dandy-Walker Syndrome/genetics , Female , Heart Septal Defects, Atrial/classification , Heart Septal Defects, Atrial/genetics , Humans , Infant , Male , Prevalence , Retrospective Studies , Terminology as Topic
Facial Plast Surg Clin North Am ; 24(4): 545-558, 2016 Nov.
Article En | MEDLINE | ID: mdl-27712820

Tessier's classification system for rare craniofacial clefts remains the most widely used today. It denotes the position of the cleft process in a schema based around the orbit, and facilitates communication between surgeons regarding these complicated conditions. Tessier's classification is reviewed in detail, and a separate discussion of hypertelorism (increased distance between the bony orbits) follows, focusing on orbital hypertelorism in the setting of craniofacial clefts.

Craniofacial Abnormalities/classification , Cleft Lip/classification , Cleft Lip/diagnosis , Cleft Lip/surgery , Cleft Palate/classification , Cleft Palate/diagnosis , Cleft Palate/surgery , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/surgery , Humans , Hypertelorism/classification , Hypertelorism/diagnosis , Hypertelorism/surgery , Reconstructive Surgical Procedures , Severity of Illness Index
Cleft Palate Craniofac J ; 53(3): e81-3, 2016 05.
Article En | MEDLINE | ID: mdl-25811764

OBJECTIVE: With the gradual replacement of the ICD-9 coding system by the newer ICD-10 system, there is a need to critically evaluate how the system improves-or fails to improve-the coding of specific cleft and craniofacial anomalies. The following review examines the new system and the key components for practitioners who treat patients with such anomalies. CONCLUSIONS: While seemingly beneficial in certain respects, the newer ICD-10 system remains far from ideal for cleft and craniofacial anomalies. With future iterations of the system, a more concerted effort to precisely code such anomalies is warranted, which will likely require input from key practitioners.

Cleft Lip/diagnosis , Cleft Palate/diagnosis , Craniofacial Abnormalities/diagnosis , International Classification of Diseases , Cleft Lip/classification , Cleft Palate/classification , Craniofacial Abnormalities/classification , Humans
Pediatr Dermatol ; 32(4): 437-46, 2015.
Article En | MEDLINE | ID: mdl-25727235

Neutrophilic dermatoses (NDs) are inflammatory skin conditions that are not associated with infection. The classification and clinical approach to these conditions in children is poorly described. This review classifies these conditions into five nosological subtypes: Sweet's syndrome, pyoderma gangrenosum, aseptic pustules, neutrophilic urticarial dermatoses, and Marshall's syndrome. In addition, we review the various secondary diseases that need to be excluded in the clinical management of the NDs of childhood, with a focus on the autoinflammatory conditions that the reader may not be familiar with. We propose a practical clinical approach to these disorders.

Neutrophil Infiltration , Skin Diseases/classification , Abscess/classification , Abscess/diagnosis , Abscess/drug therapy , Cataract/classification , Cataract/diagnosis , Cataract/drug therapy , Child , Collagen Type XI/classification , Collagen Type XI/deficiency , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/drug therapy , Diagnosis, Differential , Hearing Loss, Sensorineural/classification , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/drug therapy , Humans , Osteochondrodysplasias/classification , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/drug therapy , Pyoderma Gangrenosum/classification , Pyoderma Gangrenosum/diagnosis , Pyoderma Gangrenosum/drug therapy , Skin Diseases/diagnosis , Skin Diseases/drug therapy , Sweet Syndrome/classification , Sweet Syndrome/diagnosis , Sweet Syndrome/drug therapy , Urticaria/classification , Urticaria/diagnosis , Urticaria/drug therapy
PLoS One ; 9(11): e109033, 2014.
Article En | MEDLINE | ID: mdl-25405460

Data transformations prior to analysis may be beneficial in classification tasks. In this article we investigate a set of such transformations on 2D graph-data derived from facial images and their effect on classification accuracy in a high-dimensional setting. These transformations are low-variance in the sense that each involves only a fixed small number of input features. We show that classification accuracy can be improved when penalized regression techniques are employed, as compared to a principal component analysis (PCA) pre-processing step. In our data example classification accuracy improves from 47% to 62% when switching from PCA to penalized regression. A second goal is to visualize the resulting classifiers. We develop importance plots highlighting the influence of coordinates in the original 2D space. Features used for classification are mapped to coordinates in the original images and combined into an importance measure for each pixel. These plots assist in assessing plausibility of classifiers, interpretation of classifiers, and determination of the relative importance of different features.

Algorithms , Biometric Identification/methods , Craniofacial Abnormalities/classification , Image Processing, Computer-Assisted/methods , Humans
J Craniomaxillofac Surg ; 42(8): 1924-8, 2014 Dec.
Article En | MEDLINE | ID: mdl-25218149

Craniofacial duplication is a very rare malformation. The phenotype comprises a wide spectrum, ranging from partial duplication of few facial structures to complete dicephalus. We report the case of a newborn with an accessory oral cavity associated to duplication of the tongue and the mandible diagnosed by multi-row detector Computed Tomography, few days after her birth. Our case of partial craniofacial duplication can be considered as Type II of Gorlin classification or as an intermediate form between Type I and Type II of Sun classification. Our experience demonstrates that CT scan, using appropriate reconstruction algorithms, permits a detailed evaluation of the different structures in an anatomical region. Multi-row CT scan is also the more accurate diagnostic procedure for the pre-surgical evaluation of craniofacial malformations.

Mandible/abnormalities , Mouth Abnormalities/diagnostic imaging , Multidetector Computed Tomography/methods , Tongue/abnormalities , Craniofacial Abnormalities/classification , Female , Humans , Imaging, Three-Dimensional/methods , Infant, Newborn , Tomography, X-Ray Computed/methods
Rev Stomatol Chir Maxillofac Chir Orale ; 115(4): 239-44, 2014 Sep.
Article Fr | MEDLINE | ID: mdl-25043562

Patients with cleft lip and palate frequently develop dento-facial deformity requiring orthognatic surgery. The origin of this deformity is therapeutic and surgeons are currently trying to prevent this iatrogenicity. The maxillary dento-facial deformity in these patients is a retrognathia with infragnathia, associated with endognathia, obliquity of the occlusal plane, with deviation of the superior incisive midline in case of unilateral clefts. The difficulties in the treatment of these skeletal deformities are due to the palatal, labial, and pterygomaxillary scar tissue. Orthognathic surgery is most of the time bimaxillary with a 3-dimensional movement of the jaws including maxillary advancement. The aims of surgery are occlusal, esthetic, and functional improvement. The first step is gingivoperiosteoplasty (ideally performed during childhood), orthodontic treatment including, if necessary, transversal maxillary distraction to obtain enough space to replace the lateral incisor; extraction of premolars should be avoided if possible. Planning and performing the treatment are difficult for the orthodontist and for the surgeon. Maxillary advancement by distraction may be an interesting alternative to prevent partial relapse. Obtaining normal oro-facial functions are required for a stable result. These should be monitored after the primary treatment by the whole staff, surgeons, speech therapist, and orthodontists. Performing Le Fort 1 osteotomy is more difficult than in other patients because of scar fibrosis than needs to be released.

Cleft Lip/surgery , Cleft Palate/surgery , Orthognathic Surgical Procedures/methods , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/surgery , Humans , Preoperative Care/methods , Recurrence , Tissue Adhesions/surgery
J Plast Reconstr Aesthet Surg ; 67(8): 1055-62, 2014 Aug.
Article En | MEDLINE | ID: mdl-24933239

The Tessier number 3 cleft is one of the most intricate and destructive of all facial clefts, presenting surgeons with a difficult task for reconstruction. We present a series of 10 patients with this rare cleft all treated by a single surgeon over 30 years. All patients with Tessier number 3 clefts treated between 1978 and 2008 by the senior surgeon were reviewed. Demographic data and all associated clinical findings including cranial and extracranial anomalies were recorded. Methods used to reconstruct each patient were also noted. Seven males and three females were identified and age at initial treatment ranged from 12 months to 12 years. Mean follow-up was 6.3 years. Multiple craniofacial anomalies were appreciated including other rare facial clefts, hypertelorbitism, lacrimal obstruction, anophthalmia, choanal atresia, and hemifacial microsomia. Amniotic banding was the most prominent extracranial finding noted in these patients. Tessier number 3 clefts can be associated with multiple other craniofacial anomalies making reconstruction challenging. Soft tissue and bony reconstruction must be considered separately, and a variety of tools may be employed to accomplish each goal. As the presentation can be highly variable, an individualized treatment plan must be made to meet each patient's specific needs.

Craniofacial Abnormalities/classification , Craniofacial Abnormalities/surgery , Face/abnormalities , Face/surgery , Reconstructive Surgical Procedures/methods , Abnormalities, Multiple/classification , Abnormalities, Multiple/surgery , Adolescent , Amniotic Band Syndrome/complications , Bone Transplantation , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Male , Mouth Abnormalities/complications , Mouth Abnormalities/surgery , Retrospective Studies , Surgical Flaps , Young Adult
J Craniomaxillofac Surg ; 42(7): 1397-401, 2014 Oct.
Article En | MEDLINE | ID: mdl-24837484

Here we report a case of a Tessier number 14 cleft, the rarest form of craniofacial cleft, and our step-wise approach to its surgical correction. The patient's appearance was analyzed over a 20-year follow-up period. At the fourth and final operation, the interorbital distance was reduced, the maxilla was advanced, rib and costal cartilage were grafted for augmentation of the nasal bone, and a double eyelid fold operation was performed. Although the surgical results were not entirely satisfactory from an esthetic point of view, this step-wise surgical approach has allowed gradual improvement in the patient's facial appearance.

Craniofacial Abnormalities/surgery , Reconstructive Surgical Procedures/methods , Blepharoplasty/methods , Bone Transplantation/methods , Cartilage/transplantation , Cephalometry/methods , Child, Preschool , Craniofacial Abnormalities/classification , Craniotomy/methods , Esthetics , Eyelids/abnormalities , Female , Follow-Up Studies , Frontal Bone/surgery , Humans , Maxilla/abnormalities , Maxilla/surgery , Nose/abnormalities , Orbit/abnormalities , Orbit/pathology , Orbit/surgery , Osteogenesis, Distraction/methods , Osteotomy/methods , Osteotomy, Le Fort/methods , Rhinoplasty/methods