Outcomes for expanded polytetrafluoroethylene strip in frontalis suspension surgery.

PURPOSE: This study evaluates surgical outcomes and complication rates of frontalis suspension with expanded polytetrafluoroethylene (ePTFE). METHODS: This retrospective cohort study reviewed all patients undergoing frontalis suspension surgery using ePTFE as the sling material from January 1 2012 to March 3 2020 by a single surgeon at a single academic center. Two different surgical techniques were evaluated in the placement of the sling material. Demographic, clinical, and operative data were extracted. Outcome data including postoperative lid height, reoperation, and complication rate were extracted for the cohort and compared between the two surgical techniques. Descriptive statistics were utilized. RESULTS: Sixty-four eyes from 49 unique patients were included in this study. Forty-three (67.2%) patients had isolated congenital blepharoptosis; 14 (21.9%) had blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES); and 2 (3.1%) had cranial nerve III palsy. Fifty-one (79.7%) patients had no prior blepharoptosis surgery. Lid crease incision and stab incision techniques were utilized for 24 (37.5%) and 40 (62.5%) eyes, respectively. Overall, 21 (32.8%) eyes required reoperation with ePTFE to achieve appropriate eyelid height or contour. Only one patient experienced implant infection, requiring removal of ePTFE sling after a second reoperation. There were no cases of implant exposure or granuloma formation noted during the study period. CONCLUSION: An ePTFE strip soaked in cefazolin prior to utilization in surgery is a viable material for frontalis suspension surgery, with a lower infectious or inflammatory complication rate than previously reported. However, reoperation rate was still relatively high.

Association between blepharophimosis-ptosis-epicanthus inversus syndrome and lacrimal system anomalies.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a congenital eyelid syndrome. Several associations, including the horizontal displacement of the puncta, canalicular stenosis, and ectropion have been so far described. Herein, we report a one-year-old boy presented to the Oculoplastic Clinic of Farabi Eye Hospital with complaint of watery discharge from both eyes since his birth. Based on the general appearance, the diagnosis of BPES was made. Mild tear regurgitation from the inferior punctum was noted. Detailed examination showed bilateral superior punctal agenesis with coloboma of both upper eyelids and lateral displacement of the inferior puncta. Multiple unsuccessful attempts of probing were suggestive of the presence of NLDO. The patient was managed by performing canaliculodacryocystorhinostomy. Osteotomy was performed to pass the canalicular and nasolacrimal obstruction followed by a successful canaliculoplasty. Finally, the lacrimal drainage system was intubated with a mono-Crawford from the inferior punctum into the nasal cavity. On the 1st-month follow-up visit, the complaint of watery discharge was resolved. This is an extremely rare report of nasolacrimal duct and sac anomaly in a patient with blepharophimosis. Thus, we recommend the evaluation of the nasolacrimal drainage system in these patients after the first month of birth.

Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome.

PURPOSE: To evaluate the surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome. PATIENTS AND METHODS: This was a retrospective single arm interventional study including 18 eyes of 9 patients with Blepharophimosis-ptosis-epicanthus inversus syndrome who presented to oculoplastic clinic, ophthalmology department, Qena university hospital in the period of between July 2020 to April 2021. All the patients had BPES with epicanthus and telecanthus. All cases were subjected to by C plasty with medial and lateral canthoplasty for correction of epicanthus and telecanthus correction followed by frontalis suspension surgery to correct the co-existing blepharoptosis. RESULTS: The study included 9 cases of BPES, 6 boys and 3 girls, the mean age was 5.4 ± 1.5 in the study group, all patients had a positive family history for BPES. After surgery, the mean IICD decreased from 38.44 mm preoperatively to 32.8 mm postoperatively, with a mean difference of 6.2 mm (P <  0.001). Likewise, the mean PFL increased from 20.78 mm preoperatively to 26.63 mm postoperatively, with a mean difference of 5.8 mm (P <  0.001). Epicanthus skin fold disappeared in all cases and medical canthus could be seen with well healed difficulty seen scars. CONCLUSION: C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome was found to be an effective procedure in the correction of epicanthus and telecanthus.

A case of blepharophimosis: Freeman Sheldon syndrome.

PURPOSE: Important implications exist for ophthalmologists when considering possible early surgical intervention for potential amblyogenic anatomical abnormalities. The authors discuss the risks and benefits from an ophthalmological perspective of different interventions and review the genetic testing that confirmed the diagnosis. OBSERVATIONS: The authors describe the findings and management of an infant with Freeman Sheldon syndrome presenting with blepharophimosis of both eyelids resulting in inability to open both eyes during the first several days of life. Although the mode of inheritance for Freeman Sheldon syndrome (formerly known as Whistling Face Syndrome) is often autosomal dominant, our patient had no known family history of congenital abnormalities or consanguinity. However, genetic testing confirmed a heterozygous variant in MYH3, consistent with autosomal dominant Freeman Sheldon Syndrome. When our patient required gastrostomy (G-tube_placement, we performed an exam under anesthesia (EUA)). As is typical for Freeman Sheldon syndrome patients, intubation was difficult and complicated by pneumothorax. Eye-opening improved slightly after several weeks of life; however, the decision was made to proceed with eyelid surgery to prevent deprivation amblyopia. Surgery is scheduled for a future date. Additionally, the patient had congenital nasolacrimal duct obstruction of the left eye; however, a probing and irrigation failed because of obstruction from the abnormal facial anatomy. CONCLUSIONS AND IMPORTANCE: Patients with Freeman Sheldon syndrome are at increased risk for complications from anesthesia and surgery. Risks and benefits should be strongly considered and discussed with parent(s)/guardian(s) prior to any surgical intervention. Genetic testing of the MYH3 gene can confirm the diagnosis.

Management of blepharospasm and blepharophimosis associated with Schwartz-Jampel syndrome.

We report the case of a 5-year-old boy with progressive bilateral blepharospasm and blepharophimosis secondary to Schwartz-Jampel syndrome type 1A. Molecular findings confirmed two novel heterozygous mutations in the HSPG2 gene. After the patient did not respond to a single injection of botulinum toxin, he underwent levator resection combined with orbicularis myectomy of bilateral upper and lower eyelids, with satisfactory aesthetic and functional outcomes.

[Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia]. / Prise en charge du syndrome de blépharophimosis ptôsis épicanthus inversus (SBPE) dans un centre de référence en Tunisie.

INTRODUCTION: Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a rare congenital hereditary abnormality. It includes complex orbital-palpebral malformations, causing aesthetic and functional ramifications. Management of BPES requires two steps : diagnosis and treatment. PATIENTS AND METHODS: We performed a retrospective descriptive study of 44 patients (88 eyelids) with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). In our series, we opted for two-stage surgery in 28 cases : epicanthus-telecanthus surgery followed by ptosis surgery. Simultaneous surgery was performed in 5 cases. RESULTS: The mean age at the first visit was 6 years (6.1±6.4). The mean age of our patients at the time of the first surgery was 6.6 years. Epicanthus surgery was performed in 35 cases. The two techniques used to correct epicanthus were Y-V plasty in 30 cases (85.7%, n=35) and Y-V+double Z plasty in 5 cases (14.3%, n=35). Correction of the telecanthus was performed at the same time by a medial canthal tendon plication in 31 cases (88.6%, n=35) or transnasal canthopexy in 4 cases (11.4%, n=35). The mean age at the time of ptosis surgery was 7.23 years (±6.25), ranging from 8 months to 27 years. Ptosis surgery was performed in 41 cases (79 eyelids), of which 3 patients underwent unilateral ptosis surgery due to asymmetrical ptosis. The techniques used were levator resection in 64 eyelids and frontal suspension in 15 eyelids. CONCLUSION: BPES is often clinically diagnosed. The difficulty in management lies in the complex surgery required. There is no established consensus regarding surgical techniques or the timing of the surgeries.

A Novel Medial Canthal Reconstruction Technique in Children With Blepharophimosis Syndrome.

PURPOSE: There are different techniques for medial canthoplasty in blepharophimosis syndrome where individuals have epicanthus inversus and telecanthus leading to typical facial appearances. These methods have potential problems with scarring, epistaxis, and extrusion of metal plates. METHODS: The authors describe a novel technique of medial canthal reconstruction using titanium microplates with microscrew fixation to the anterior lacrimal crest, with effective, safe, and reproducible results. RESULTS: Seven children with blepharophimosis syndrome underwent medial canthus reconstruction surgery at a single center with the collaboration of a pediatric oculoplastic surgeon and craniofacial plastic surgeon to improve eye opening through correction of the lid contours and telecanthus. CONCLUSIONS: This is a safe, effective, and reproducible technique, with minimal morbidity and rapid postoperative recovery in children. It produces cosmetically acceptable scars and a strong stable reconstruction of the medial canthal insertion.

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

BACKGROUND: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Here, we describe a patient who was diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities. CASE PRESENTATION: A 10-year-old male was first referred to our ophthalmology clinic on 2009-2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. In the first ophthalmic examination, his palpebral fissure length was 19 mm on the right and 20 mm on the left, both palpebral fissure height was 4 mm, the inner intercanthal distance was 63 mm, both upper margin reflex distances were - 1 mm, the myodynamia of the levator palpebrae muscle was 2 mm on the right and 3 mm on the left, and his visual acuity was 20/40 on the right and 20/32 on the left. A physical examination revealed the patient had developed limb deformities in his hands, wrists, elbows and shoulders along with hearing loss. The patient was diagnosed with Goldenhar syndrome because his clinical presentations included ocular hypertelorism, hearing loss, and multiple acral joint deformities. He underwent a first operation in 2009 and a second in 2015. The second operation achieved a satisfactory result in which the horizontal fissure length was 28 mm on both sides, both palpebral fissure height was 10 mm, the inner intercanthal distance was 30 mm, and both of the upper margin reflex distances were 4 mm. He continued to wear hearing aids as usual. His hearing loss and joint deformities were slated for long-term follow-up at his parents' request. CONCLUSION: The patient, diagnosed with Goldenhar syndrome in association with blepharophimosis, ocular hypertelorism, hearing loss and limb deformities, underwent two operations and achieved a satisfactory result. The patient was submitted to long-term follow-up observations and symptomatic treatments that vary with age and systemic associations, as needed. When treating patients with Goldenhar syndrome, ophthalmology specialists should cooperate with a multi-disciplinary team of clinicians and reach agreement regarding the appropriate systemic and comprehensive treatments.

[Effectiveness of levator muscle resection combined with Mustarde's double Z-plasty for blepharophimosis-ptosis-epicanthus inversus syndrome].

Objective: To investigate the effectiveness of levator muscle resection combined with Mustarde's double Z-plasty to correct blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods: Between March 2015 and June 2017, one-stage operation of levator muscle resection combined with Mustarde's double Z-plasty were performed on 26 children with bilateral BPES. There were 16 boys and 10 girls with an average age of 7 years (range, 4-14 years). All patients marked the four typical signs of BPES. There were 7 cases accompanied with a low nasal bridge, and 20 cases with amblyopia and strabismus. The length of eye fissure was (19.5±4.5) mm, the width of eye fissure was (2.5±1.6) mm, the diameter of inner canthus was (42.1±6.5) mm, and the muscular strength of levator palpebrae superioris was (5.5±1.3) mm. Results: All the incisions healed by first intention. Twenty-three patients were followed up 2-12 months, with an average of 10 months. Among which, 2 cases were less corrected, 3 cases were over corrected, 6 cases had poor curvature of the eyelid. No eyelid internal and external pronation or keratitis occurred. Amelioration of blepharoptosis and epicanthus was achieved in the other patients, and the double eyelid fold was naturally smooth. At 7 days after operation, the length of eye fissure was (27.2±1.9) mm, the width of eye fissure was (12.5±1.3) mm, and diameter of inner canthus was (29.4±2.6) mm, which were superior to preoperative values ( t=0.127, P=0.042; t=0.341, P=0.029; t=0.258, P=0.038). There was no angular deformity caused by the width and length regressions of eye fissures. Conclusion: The levator muscle resection combined with Mustarde's double Z-plasty can effectively correct BPES and obtain good effectiveness.

Tratamento cirúrgico da ptose palpebral moderada e grave: análise de resultados / Surgical treatment of moderate and severe ptosis: analysis of results

Introdução: A ptose palpebral é uma afecção comum na prática clínica na qual uma perfeita avaliação torna-se mandatória. Definimos ptose quando a margem palpebral encontra-se abaixo de 2 mm da junção córneo escleral e pode ser classificada em leve, moderada e grave. Existem inúmeras técnicas de reparo e a escolha dependerá da classificação da função do músculo levantador. Métodos: Foram analisados de forma prospectiva, no período de março de 2013 a maio de 2015, quatorze (n = 14) pacientes submetidos ao tratamento cirúrgico de ptose palpebral moderada e grave (n = 21). Inúmeros fatores foram estudados, tais como grau de ptose e função do músculo elevador da pálpebra, tipo de técnica de reparo, complicações imediatas e tardias, etc. Resultados: Quatorze pacientes foram opera-dos, totalizando 21 pálpebras, sendo que, 85% foram de etiologia adquirida e 15% congênita. Com relação ao grau de ptose, 64,3% (n = 9) foram moderadas e 35,7% (n = 5) graves. No que tange à função do músculo levantador, encontramos função boa 28,5% (n = 4), moderada 28,5% (n = 4) e pobre 43% (n = 6). Em relação às com-plicações, 2 casos de hiperemia conjutival e um caso de edema. Obtivemos um alto índice de satisfação com 85,7% (n = 12), com baixas taxas de complicações. Conclusão: A ptose palpebral é uma enfermidade comum na prática clínica e exige por parte do cirurgião um perfeito conhecimento anatômico da delicada estrutura palpebral e também de sua fisiopatologia. Uma perfeita avaliação desse paciente torna-se mandatória para o emprego do tratamento mais adequado.

Introduction: Eyelid ptosis is a common condition in clinical practice for which a complete evaluation is mandatory. Ptosis is defined when the eyelid margin is 2 mm below the corneoscleral junction and can be classified as mild, moderate, and severe. There are numerous repair techniques, and the choice will depend on the classification of the function of the levator muscle. Methods: We evaluated prospectively, from March 2013 to May 2015, 14 patients who underwent surgical treatment of moderate and severe ptosis (n = 21). Several factors were studied, such as degree of ptosis and function of the eyelid levator muscle, type of repair technique, and immediate and late complications. Results: Fourteen patients (21 eyelids) underwent operation. The etiology was acquired in 85% of the cases and congenital in 15%. With respect to the degree of ptosis, 64.3% (n = 9) of the cases were moderate and 35.7% (n = 5) were severe. With respect to the muscle function of the levator, good, moderate, and poor functions were observed in 28.5% (n = 4), 28.5% (n = 4), and 43% (n = 6) of the cases, respectively. With regard to complications, 2 cases of conjunctival hyperemia and one case of edema were observed. We obtained a high satisfaction rate of 85.7% (n = 12), with low complication rates. Conclusion: Eyelid ptosis is a common presentation in clinical practice and requires on the part of the surgeon a detailed anatomical knowledge of the delicate structure of the eyelid and its pathophysiology. A complete evaluation of these patients is mandatory for the employment of the most appropriate treatment.

Endoscope-assisted harvest of autogenous fascia lata in frontalis suspension surgery: A minimally invasive approach revisited.

PURPOSE: To report endoscope-assisted fascia lata harvest (EAFH) as a minimally-invasive technique for correction of severe blepharoptosis. METHODS: This was a retrospective case series between January 2013 and April 2017. Medical records of all consecutive patients who underwent frontalis suspension by EAFH in the study period were reviewed and outcome was analyzed. RESULTS: Fourteen patients (10 males) were included in the study. Mean age of the group was 18.14 + 17.03 years (range 4-65 years) and 11 patients had simple congenital blepharoptosis. Blepharophimosis syndrome was seen in 3 patients. Eleven patients had bilateral blepharoptosis. The mean preoperative and postoperative MRD1 was -1.60 ± 0.87 mm and +2.12 ± 1.37 mm respectively. Mean lengths of the incision and fascial harvest were 2.25 ± 0.43 cm and 13.0 ± 2.35 cm (range 10-17 cm) respectively. The median follow-up of patients was 4.57 + 4.03 months (range 1-15 months). Complications included a wound dehiscence in two patients and these were resutured. The donor sites healed well in all patients leaving a small thigh scar and none needed scar revision. CONCLUSION: EAFH is a promising minimally-invasive technique performed with a small incision and achieved adequate length of fascial harvest.

Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle.

Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.

Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle / Remoção acidental da glândula lacrimal em cirurgia de ressecção do músculo levantador da pálpebra superior

ABSTRACT Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.

RESUMO A remoção acidental da glândula lacrimal é uma complicação rara da cirurgia de ptose. Relatamos duas crianças que foram submetidas à grandes ressecções unilaterais do músculo levantador da pálpebra superior que desenvolveram olho seco após a cirurgia. No pós-operatório, os pais notaram ausência de secreção lacrimal durante o choro no olho operado. Tomografia computadorizada de órbitas comprovou ausência da glândula lacrimal no olho submetido à cirurgia, em ambos os casos. Cirurgiões oculoplásticos devem estar atentos à anatomia do músculo levantador e estruturas relacionadas para evitar lesões em importantes estruturas orbitais como as da glândula lacrimal que podem induzir permanente olho seco.

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1-year-old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B-scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.

Surgical Approach, Findings, and Eight-Year Follow-Up in a Twenty-Nine Year Old Female With Freeman-Sheldon Syndrome Presenting With Blepharophimosis Causing Near-Complete Visual Obstruction.

The authors describe the surgical approach, findings, and 8-year follow-up in a 29-year-old woman, with severe Freeman-Sheldon syndrome, presenting with congenital blepharophimosis of both upper eyelids resulting in near-complete functional visual obstruction. To avoid possible Freeman-Sheldon syndrome-associated complications of malignant hyperthermia, difficult vascular access, and challenging endotracheal intubation, the surgery was completed under local anesthesia without sedation, and anatomical and functional correction was immediate and remained stable at 8-year follow-up. Unlike many congenital craniofacial syndromes, which frequently involve life-long impairments, important implications exist for plastic surgeons to facilitate opportunities for patients to overcome functional limitations.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype-phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). METHODS: Clinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype-phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. RESULTS: All patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype-phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche. CONCLUSIONS: This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.

[Blepharophimosis-ptosis-epicanthus inversus syndrome]. / Syndrom blefarofimóza-ptóza-inverzní epikantus.

PURPOSE: To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed. RESULTS: There were four affected males and one female in three generations. The proband underwent two surgical eyelid procedures in childhood. Upon our examination, he had symmetrical ptosis with shorter eye lids, and incomplete medial canthal closure. The skin in the inner canthi was scarred, and the medial lower lids slightly everted, leading to malapposition of lacrimal punctae. There was no epicanthus inversus, however it was impossible to determine the status prior to the eyelid surgeries. The best corrected visual acuity was 0.66 and 0.33, in the right and left eye, respectively. The rest of the ocular examination was normal. There was no strabismus. Based on inspection of photographs taken prior to eyelid surgeries, the typical signs of BPES were also present in a son and a nephew of the proband. Photographs of the affected brother were not available, but family history indicated that he had BPES and underwent in his childhood two eye lid surgeries. Atypical ocular phenotype of the probands mother has been published previously. CONCLUSIONS: Ophthalmologists need to be aware about the phenotype of BPES, with the potential for visual impairment, and the need for personalized management in the affected families.Key words: blepharophimosis-ptosis-epicanthus inversus, phenotype, FOXL2.

The Partnership of Medical Genetics and Oral and Maxillofacial Surgery When Evaluating Craniofacial Anomalies.

A medical geneticist who has an interest in craniofacial anomalies forms a natural partnership with an oral and maxillofacial surgeon, which facilitates patient care. Using complementary diagnostic and therapeutic skills, the search for a recognizable pattern can lead to a syndrome diagnosis. After the initial examination, there is usually genetic testing to confirm the clinical diagnosis. Once established, care coordination and genetic counseling can be provided for the parents and the patient. Enrolling the patient into a research study could be helpful to understand the diagnosis but, in some circumstances, might not have immediate clinical relevance. A multidisciplinary craniofacial team is generally necessary for long-term management. This article discusses illustrative patients evaluated from 2007 through 2011 with the senior oral and maxillofacial surgeon at the Massachusetts General Hospital (Leonard B. Kaban, DMD, MD). These include single patients with the Nablus mask-like facies syndrome and auriculo-condylar syndrome and a series of 20 patients with Gorlin syndrome followed by a multispecialty team. A successful collaboration between a medical geneticist and an oral and maxillofacial surgeon optimizes the treatment of patients with craniofacial anomalies.