Posterior midline cleft of the atlas – a crucial anatomical variation in vertebral fractures

The anatomy of the first vertebra, namely atlas, has significant clinical implications. Atlas is situated between the occipital bone and the second cervical vertebra (axis) and is one of the main points of head movement. Most congenital anomalies of the vertebra are diagnosed incidentally during imaging investigations and can be associated with cervical spine anomalies. The neurological symptoms may include weakness in the four limbs, acute neurologic deficits such as transient quadriparesis, paraparesis, Lhermitte's sign, chronic neck pain, and headache. This anomaly is also commonly seen in gonadal dysgenesis, Klippel-Feil syndrome, Arnold-Chiari malformations, and Turner and Down syndrome. Unlike other variations, which arise due to disturbances of ossification posterior midline clefts of the atlas, are different since they are a developmental failure of chondrogenesis. We therefore present an anatomical case and analysis of the literature about posterior arch clefts of atlas.

To the Lip and Beyond: A Case Report of a Midline Tessier 30 Cleft

ABSTRACTObjective: To present the case of a midline Tessier 30 cleft in a baby boy who initially underwent a glossoplasty, cheiloplasty and mentoplasty. Methods:Design: Case ReportSetting: Tertiary Government Training HospitalPatient: One Result: A 4-month-old boy with a complete midline cleft of the lower lip, alveolus and mandible, and bifid distal tongue that was fused with the floor of the mouth, underwent glossoplasty, cheiloplasty and mentoplasty with subsequent excellent aesthetic outcome and normal oral competency. Conclusion: Tessier 30 is a rare congenital midline mandibular cleft. Prompt glossoplasty, cheiloplasty and mentoplasty can correct the gross deformity, restore oral competency, and address functional needs such as feeding, swallowing and early speech development. Future bony repair will hopefully complete the reconstruction.

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review

Knobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1. KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.

Anatomic landmark approach to reconstruction of asymmetric midline cleft lip due to Pai syndrome

Midline clefts of the upper lip are rare, and it is therefore important that surgeons have access to a methodical approach for when these presentations are encountered. We adapted principles of the anatomic subunit approximation for unilateral cleft lip, to the repair of midline clefts. The overt use of anatomic landmarks to define the repair results in a design that inherently adjusts to varying degrees of clefts and can accommodate asymmetries. The “measure twice, cut once” style is an advantage to new surgeons and to surgeons who seldom encounter this presentation. We describe the details of surgical repair in the context of a patient with Pai syndrome and associated nasal hamartomas that resulted in nasolabial asymmetry. This is the first report of surgical outcome following treatment of Pai syndrome and includes early and 5-year follow-up. The system of repair that we describe is applicable to both symmetric and asymmetric midline clefts.

Anterior and Posterior Commissuroplasty: Taking Labiaplasty to the Next Level

As the popularity of female cosmetic genital surgery has grown, so has the number of publications detailing surgical techniques, particularly regarding labiaplasty. As a nascent surgical field, much room remains for finesse and exploration of new techniques to optimize outcomes and patient satisfaction. We present the techniques for anterior and posterior commissuroplasty the senior author (O.J.P.) has developed. Anterior commissuroplasty is efficacious in addressing a number of anatomic variations to achieve the appearance of a single midline cleft, which is commonly requested by patients. Posterior commissuroplasty was developed to address skin excess at the posterior fourchette that may develop as a result of labiaplasty. Either technique may be used in combination with labiaplasty or as a stand-alone procedure. These tools may be a useful addition to the repertoire of a surgeon practicing female genital surgery. Level of Evidence: 4

Median cleft lip: an uncommon and unique anomaly

Median or midline cleft lip [MCL] is an uncommon anomaly characterized by a midline vertical cleft through the upper lip and are either isolated or part of multiple anomalies. It can involve the pre-maxilla, the nasal septum, and the central nervous system. MCL includes Complete (42%), Incomplete (49%), and Minor forms (9%). The three main groups distinguished were: 1. Isolated MCL; 2. MCL with craniofacial malformations; and 3. MCL with extra-facial malformations. To analyze two operated cases of median cleft lip and review the relevant literature. The details of two cases of median cleft lip that were operated in 2017 were analysed. Both cases underwent wedge excision with the classical inverted V incision and muscle reconstruction with satisfactory result. Both the patients had no syndromic association or associated anomaly. All cases of MCL require evaluation for associated abnormalities. Isolated MCL can be repaired surgically with a good outcome.

A Rare Case of a Combination of Tessier Cleft 0 and 3 in a 4-Year-Old Child—A Case Report

Description and successful management of a patient with Tessier no. 0 and 3 facial cleft is being presented. Appropriate evaluation was done to rule out the presence of median cleft face syndrome. Lip cleft was repaired by straight line technique with staggering at the vermilion border. Nasal cleft was reconstructed by a transposition flap and the flap taken from the upper lip after correction of the midline cleft. Satisfactory outcome was achieved for this singular deformity by conforming to the basic tenets of plastic surgery.

Complete Midline Cleft of Lower Lip, Mandible, Tongue, Floor of Mouth with Neck Contracture: A Case Report and Review of Literature

Midline cleft of the lower lip and mandible is an extremely rare condition. Since 1819, when the first case was reported by Couronne, fewer than 80 cases have been described in the world literature so far. The cleft has also been described as facial cleft no. 30 by Paul Tessier. The condition varies in severity from a mild variety in which there is a submucous cleft and notching in the lower lip to a severe variety, involving the tongue, floor of the mouth, mandible, absent hyoid, atrophic neck muscles, and sternum. In this case report, a female child having complete midline cleft of the lower lip and mandible, with bifid tongue stuck to the floor of the mouth, absent hyoid bone and flexion contracture band extending from the confluence of the tip of the tongue, floor of the mouth, cleft mandible to the manubrium sterni is described, with special emphasis on surgical planning and management.