Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature.

It concerns three siblings (two 28 year old twin boys and a 25 year old woman) who presented a previous history of rupture of eyeball in one eye and very poor vision in the other. At the first ophthalmoscopic and instrumental evaluation, three patients presented with bluish sclera and keratoglobus in the intact eye. A genetic analysis with whole exome sequencing was then performed on the three siblings, identifying a biallelic variant of the PRDM5 gene that led to the diagnosis of Brittle Cornea Syndrome (BCS), a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. To preserve the only intact eye from possible breakage, the three siblings were trained in using protective measures (polycarbonate goggles etc.) to carry out close monitoring of symptoms and were asked to continue with follow-up visits for ocular and systemic diseases associated with BCS. Given the poor best corrected visual acuity achievable with glasses and contact lenses, penetrating keratoplasty was performed, achieving good visual acuity maintained in the 2-year follow-up in two of the three patients. Knowledge of this pathology and its clinical manifestations is essential for early diagnosis and correct management of this rare but very debilitating pathology. To our knowledge, this is the first case series of BCS reported in an Albanian population.

Congenital Midline Cervical Cleft and Thyroglossal Duct Fibrous Cord-Like, is There a Mixed Presentation?

INTRODUCTION: Congenital midline cervical cleft is a rare condition and is frequently misdiagnosed as thyroglossal duct cyst. Otherwise, the combination of congenital midline cervical cleft and thyroglossal duct fibrosis in the same patient is as rare as important to be registered with the intention to inform and offer specific managements details for the literature. CASE PRESENTATION: Eight-year-old boy with simultaneous congenital midline cervical cleft and a thyroglossal duct fibrosis. The anatomic, clinical, radiologic, and pathologic characteristics of the congenital midline cervical cleft are described as well as surgical technique for removal and repair with Z-plasty. CONCLUSION: Congenital midline cervical cleft is a rare condition and when diagnosed must be surgically treated as early as possible. Its differential diagnosis is a clinical challenge.

Comparative study of conventional internal limiting membrane peeling versus temporal inverted internal limiting membrane flap for large macular hole treatment.

Purpose: To compare the anatomical, morphological, and functional outcomes of the conventional internal limiting membrane (ILM) peeling versus temporal inverted ILM flap technique for large full-thickness macular holes (FTMHs). Methods: Sixty eyes of 60 patients with a minimum base diameter >600 µm were included in this retrospective interventional study. Patients were divided into conventional ILM peeling (Group 1) and temporal inverted ILM flap (Group 2) groups. The hole closure rate, best-corrected visual acuity (BCVA), ellipsoid zone (EZ), and external limiting membrane (ELM) defects were analyzed at baseline and 6 months after surgery. Results: Hole closure was achieved in 24/32 (75.0%) cases of Group 1 and 27/28 (96.4%) cases of Group 2 (P = 0.029). The mean BCVA (logMAR) changed from 1.23 ± 0.47 to 0.70 ± 0.29 logMAR in Group 1 and from 1.03 ± 0.36 to 0.49 ± 0.24 logMAR in Group 2 at 6 months (P < 0.001 in both cases). U-shaped closure was observed in 5 (15.6%) eyes in Group 1 and 19 (67.9%) eyes in Group 2 (P < 0.001). The total restoration rates of ELM and EZ were significantly higher in the temporal inverted ILM flap group (P = 0.002, P = 0.001, respectively). Conclusion: The study results suggested that the FTMH closure rate, recovery of the outer retinal layers, and, consequently, the post-operative BCVA were better with the temporal inverted ILM flap technique than with the conventional ILM peeling for larger than 600 µm macular holes.

Congenital Midline Cervical Cleft (CMCC): Z-Plasty Versus Linear Cutaneous Repair.

Congenital midline cervical cleft (CMCC) is a rare congenital difference. Accurate diagnosis is important to ensure appropriate treatment. CMCC results in both functional and esthetic concerns addressed by surgical management. While the majority of reported CMCC cases have been treated with a z-plasty, the best method of repair has been debated in the literature. The authors present a case of CMCC and review of the literature.

Surgical Techniques for the Repair of Webbed Neck: A Scoping Review.

Webbed neck is a rare condition characterized by bilateral subcutaneous bands, which extend from approximately the mastoid to the acromion. Given its rarity, the literature lacks a review of the techniques used in the repair of this condition. We performed a scoping review to define and summarize the surgical techniques been used in the treatment of webbed neck, with the goal of better equipping the surgeons' armamentarium. Two databases, PubMed and Scopus, were searched from inception through December 27, 2021. Studies were considered for inclusion if they (1) described the webbed neck condition and (2) reported results of surgical correction of this condition. Surgical outcomes and follow-up durations were reported as available. Twenty-two manuscripts were analyzed and included data on 60 patients. The most common syndrome associated with webbed neck was Turner syndrome (48 patients). The most frequently documented procedure technique was a Z-Plasty (38 patients). Other procedures described included: butterfly correction, V-Y Plasty, posterior cervical lift, skin excision, tissue expansion plus skin excision, T to M rearrangement, and subcutaneous fascial excision. Documented complications included hypertrophy of procedure scars or webbed neck recurrence. In summary, we present the first full literature review of the surgical techniques used in the repair of webbed neck. When selecting the technique for repair of the webbed neck, function and cosmesis are important considerations. Future studies should collect standardized outcomes data to appropriately assess and compare the described procedures.

Stromal peeling for deep anterior lamellar keratoplasty in post-penetrating keratoplasty eyes.

BACKGROUND/AIMS: To evaluate the clinical outcomes of deep anterior lamellar keratoplasty performed by stromal peeling in eyes that have previously undergone penetrating keratoplasty (PK) for keratoconus. METHODS: Standardised stromal exchange included (1) 9 mm trephination of the recipient bed outside the old PK wound, (2) creation of a partial anterior corneal flap through lamellar dissection across the PK wound, (3) opening the stromal component of the old PK wound using blunt-tipped Vannas scissors until a plane of separation is reached, (4) severing the attachment of the PK surgical scar from the recipient host, (5) peeling the stroma of the PK graft from the underlying tissue and (6) suturing the donor anterior corneal lamella prepared by microkeratome dissection (450 µm depth, 9 mm diameter). Main outcome measures were success rate, best spectacle-corrected visual acuity (BSCVA) and endothelial cell loss (ECL). RESULTS: Of 21 post-PK eyes, stromal exchange succeeded in all but three cases, which were converted to a two-piece mushroom PK. After complete suture removal, mean BSCVA significantly improved from 0.95±0.39 logMAR preoperatively to 0.23±0.17 logMAR (p<0.001). Mean ECL was 5.4±23.2%. Double anterior chamber formation occurred in eight cases (44%), which all resolved after a single re-bubbling. CONCLUSION: In post-PK eyes, stromal exchange can be performed by means of simple peeling without deep anterior lamellar dissection of the previous PK graft. Large-diameter (9 mm) repeat keratoplasty through stromal peeling yields excellent visual outcomes and minimal ECL. Double anterior chamber formation may complicate the postoperative course, but prompt intervention allows successful management.

Z-plasty for correction of standing cutaneous deformity.

Cutaneous head and neck reconstruction following Mohs micrographic surgery frequently presents the surgical dilemma of dog-ear formation during wound closure. Z-plasty corrects a dog-ear deformity without skin excision by recruiting tissue from the axis of the standing cone and redistributing it along another. We describe dog-ear correction using the Z-plasty technique.

Beare-Stevenson Syndrome With Blepharoptosis as a Complication of Front-Orbital Advancement and Remodeling.

Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR.

Cutaneous vascular lesions in the pediatric population: a review of laser surgery applications and lesion-specific device parameters.

Laser surgery is becoming an increasingly efficacious and customizable treatment modality for the management of pediatric vascular lesions. Proper use requires a thorough understanding of the scientific principles of laser surgery and knowledge of the various lasers available. Moreover, each laser has a multitude of settings that can be employed to properly target the lesion at hand. Each patient will present with unique challenges and variations in the presentation of their vascular lesion. This requires understanding of the most effective laser to use for each lesion and the factors that may alter the desired device settings. Using key search terms, a literature search was conducted on laser surgery for pediatric vascular lesions using PubMed/MEDLINE and Embase for articles published in English or French. Ultimately, 52 articles met our search criteria. The laser indications, limitations, and settings utilized for each type of vascular lesion were compiled for the purposes of this summative review. Laser surgery is an effective and appropriate option for the treatment of certain pediatric vascular lesions. Knowledge of optimal device parameters in every setting is essential to good clinical practice.

Limited Dorsal Myeloschisis: Reconsideration of its Embryological Origin.

BACKGROUND: Limited dorsal myeloschisis (LDM) is postulated to be a result of incomplete dysjunction in primary neurulation. However, clinical experience of LDM located below the first-second sacral (S1-S2) vertebral level, which is formed from secondary neurulation (S2-coccyx), suggested that LDM may not be entirely explained as an error of primary neurulation. OBJECTIVE: To elucidate the location and characteristics of LDM to investigate the possible relation of its pathoembryogenesis to secondary neurulation. METHODS: Twenty-eight patients were surgically treated for LDM from 2010 to 2015. Since the level where the LDM stalk penetrates the interspinous ligament is most clearly defined on the preoperative MRI and operative field, this level was assessed to find out whether the lesions can occur in the region of secondary neurulation. RESULTS: Eleven patients (39%) with typical morphology of the stalk had interspinous defect levels lower than S1-S2. These patients were not different from 17 patients with classic LDMs at a level above or at S1-S2. This result shows that other than the low level of the interspinous level, 11 patients had lesions that could be defined as LDMs. CONCLUSION: By elucidating the location of LDM lesions (in particular, the interspinous level), we propose that LDM may be caused by errors of secondary neurulation. The hypothesis seems more plausible due to the supportive fact that the process of separation between the cutaneous and neural ectoderm is present during secondary neurulation. Hence, incomplete disjunction of the two ectoderms during secondary neurulation may result in LDM, similar to the pathomechanism proposed during primary neurulation.

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.

Escobar Syndrome-An Multidisciplinary Approach for an Excellent Outcome With 3 Years of Follow-Up.

This case report intends to provide the facial characteristics of Escobar syndrome and to describe the orthodontic treatment of a 12-year-old female patient diagnosed with it. Escobar syndrome, a variant of the multiple pterygium syndrome, is a rare disorder with many systemic, facial, and oral manifestations.The patient presented with mixed dentition, severe dolichofacial pattern, increased lower facial height, convex profile, severe anterior open bite, maxillary hypoplasia, and mandibular retrognatism. The multidisciplinary approach included soft cleft palate repair, orthodontic treatment, orthognathic surgery, restorative cosmetic dentistry, speech therapy, and physiotherapy. Despite the limitations imposed by the syndrome, this report illustrates how the multidisciplinary treatment approach aided in the correction of occlusal function and facial esthetics and improvement in the quality of life of the patient with Escobar syndrome.

Growth-Friendly Spine Surgery in Escobar Syndrome.

BACKGROUND: The aims of this study were to characterize the spinal deformity of patients with Escobar syndrome, describe results of growth-friendly treatments, and compare these results with those of an idiopathic early-onset scoliosis (EOS) cohort to determine whether the axial stiffness in Escobar syndrome limited correction. METHODS: We used 2 multicenter databases to review the records of 8 patients with EOS associated with Escobar syndrome who had at least 2-year follow-up after initiation of growth-friendly treatment from 1990 to 2016. An idiopathic EOS cohort of 16 patients matched for age at surgery (±1 y), postoperative follow-up (±1 y), and initial curve magnitude (±10 degrees) was identified. A randomized 1:2 matching algorithm was applied (α=0.05). RESULTS: In the Escobar group, spinal deformity involved 7 to 13 vertebrae and ranged from no vertebral anomalies in 3 patients to multiple segmentation defects in 6 patients. Mean age at first surgery was 5 years (range, 1.4 to 7.8 y) with a mean follow-up of 7.5 years (range, 4.0 to 10 y). Mean major curve improved from 76 degrees at initial presentation, to 43 degrees at first instrumentation, to 37 degrees at final follow-up (both P<0.001). Mean pelvic obliquity improved from 16 degrees (range, 5 to 31 degrees) preoperatively to 4 degrees (range, 0 to 8 degrees) at final follow-up (P=0.005). There were no differences in the mean percentage of major curve correction between the idiopathic EOS and Escobar groups at the immediate postoperative visit (P=0.743) or final follow-up (P=0.511). There were no differences between the cohorts in T1-S1 height at initial presentation (P=0.129) or in growth per month (P=0.211). CONCLUSIONS: Multiple congenital fusions and spinal curve deformity are common in Escobar syndrome. Despite large areas of congenital fusion, growth-friendly constructs facilitate spinal growth and improve curve correction. These results are comparable to those in idiopathic EOS. LEVEL OF EVIDENCE: Level III-case-control study.

Modified Posterolateral Approach for Pterygium Colli.

Pterygium colli is a congenital deformity associated with malformation syndromes. Various surgical procedures have been reported, but these procedures have advantages and disadvantages. The modified posterolateral approach has been reported as a new surgical procedure for pterygium colli. However, there has been no confirmatory report. In this study, a case of pterygium colli that was treated with the modified posterolateral approach was reported.An 11-year-old girl with Turner syndrome was referred with chief complaints of web neck deformity and an abnormal hairline. The modified posterolateral approach was selected. Hairy excessive skin was excised at the posterolateral and posterior neck. An inferior skin incision was made parallel to the hairline, and a superior skin incision was made along the desired hairline. Hairless excessive skin was excised along the posterior midline of the neck. Undermining was extended over the sternocleidomastoid muscle, and flaps were rotated upward and inward. Z-plasty was performed at the posterior midline of the neck to prevent hypertrophic scar formation. The web neck deformity disappeared, but the patient expressed concern for excessive skin at the posterior midline. Thus, secondary surgery was performed 12 months later. The operative scar was opened 2 months after secondary surgery owing to suture abscess, and the wound was closed directly. The web neck deformity had not recurred, and the natural hairline was maintained at 65 months after the primary surgery.The modified posterolateral approach is beneficial for pterygium colli, because it allows the correction of the web neck deformity and abnormal hairline without a noticeable scar.

Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. / Reconstrucción palpebral multidisciplinar en el síndrome de Barber-Say: a propósito de un caso.

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.

Posterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis.

PURPOSE: Posterior calvarial vault expansion using distraction osteogenesis is performed for syndromic craniosynostosis as the first choice. This procedure allows far greater intracranial volume than fronto-orbital advancement (FOA). This study aimed to determine the most suitable timing of posterior distraction or FOA to sufficiently increase the intracranial volume and remodel the skull shape. PATIENTS AND METHODS: From 2014 to 2017, the authors performed posterior distraction in 13 patients with syndromic craniosynostosis. Data on premature suture fusion, age at first visit, age at surgery, skull thickness, and complications were collected. RESULTS: Five patients underwent posterior distraction at approximately 12 months of age and had no complications, including cerebrospinal fluid leakage or gull wing deformity. However, during the waiting period for the operation, the skull deformity continues to extend upward (turribrachycephaly). To prevent progress of the skull deformity, the authors performed the operation at approximately 6 months of age in 7 patients. However, in 3 of 7 patients whose lambdoid sutures were opening, gull wing deformity occurred. From these results, in a patient with severe Beare-Stevenson syndrome, the authors performed FOA first at 5 months of age, followed by posterior distraction at 12 months of age, and achieved favorable results. CONCLUSIONS: Treatment patterns are patient specific and should be tailored to premature suture fusion, specific skull deformity, and required intracranial volume of each patient.