Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword \"Floating-Harbor syndrome\". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.

BACKGROUND: Frontonasal dysplasia (FND) is a rare congenital anomaly resulting from the underdevelopment of the frontonasal process, and it can be syndromic or nonsyndromic. The typical features of FND include a deformed nose and ocular hypertelorism, which are sometimes associated with cleft lip and/or palate. Only approximately 10 cases of prenatally diagnosed nonsyndromic FND have been reported in the past 30 years.
METHODS: A 33-year-old woman (G2P1) was referred to our center at 20 gestational weeks for bilateral hydrocephaly. We detected typical features of FND, including severe hypertelorism, median nasal bifidity, a minor cleft lip, and multiple limb anomalies using three-dimensional (3D) ultrasound. A hypoplastic corpus callosum, unilateral microtia, and a ventricular septal defect were also detected. Genetic testing, including karyotype analysis, copy number variation (CNV) analysis, trio-whole exome sequencing (trio-WES), and trio-whole-gene sequencing (trio-WGS), was performed; however, we did not find any de novo gene variants in the fetus as compared to the parents. Postmortem examination confirmed the prenatal diagnosis of FND.
CONCLUSIONS: The present case expands the wide phenotypic spectrum of prenatal FND patients. 3D ultrasound is a useful tool for detecting facial and limb deformities.

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations.

Congenital midline cervical cleft is a rare anomaly classified as a malformation of the branchial arches and represents less than 2% of congenital cervical malformations. Its clinical presentation involves cervical midline deformities: cephalic nodular lesion, linear groove with atrophic surface, and/or caudal sinus. Other midline alterations of variable complexity may also be present. Early treatment allows for avoiding long-term complications. Based on our experience in four clinical cases, a performed literature search on the topic in the last twenty years, and subsequent discussion of the employed surgical approaches, we included 150 reported cases in our review. Correct diagnosis and early treatment with complete removal of the fibrous midline band is paramount to avoid patient complaints until adolescence or adulthood.

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OBJECTIVE: This study aimed to analyze the safety and efficacy of preauricular fistulectomy with fascia-anchoring suture technique through large case series. In addition, differences in surgical outcomes according to preoperative status and age were investigated.
METHODS: In this retrospective study, 380 patients (450 ears) with preauricular fistula (PAF) who underwent preauricular fistulectomy with fascia-anchoring suture technique by a single surgeon (E.P) were enrolled. Patients were divided into fresh, previous incision and drainage (I&D), and the revision surgery groups according to the preoperative status. Additionally, they were divided into adult and pediatric groups according to age. Patient\'s demographics, postoperative infections, and recurrence rates were analyzed.
RESULTS: The mean age of the patients was 28.3 years, and there were 119 males and 261 females. Out of 450 PAFs (n = 281 in the fresh groups, n = 119 in the previous I&D groups, and n = 50 in the revision groups), 21 (4.7 %) cases had postoperative infections and 12 (2.7 %) cases had recurrence. There was no difference in postoperative infections, regardless of the preoperative condition (I&D group, p = 0.701; revision group, p = 0.658). The recurrence rate was higher in the revision group than in the fresh and I&D groups (p = 0.004). There was no significant difference in postoperative infection (p = 0.221) or recurrence (p = 0.161) between adults and children.
CONCLUSIONS: The study found that performing preauricular fistulectomy with a fascia-anchoring suture technique led to low rates of postoperative infections and recurrences. These positive outcomes were consistent across different patient groups categorized by preoperative status and age, indicating the technique\'s safety and effectiveness for all patients with preauricular fistulas.

Marshall syndrome is an extremely rare genetic disorder usually diagnosed in infancy with a prevalence of <1 in 1 million. Based on the literature reviewed, this is the first case report to provide a longitudinal history of a child with Marshall syndrome (from birth to age 12.5 years). This longitudinal case report arose in part from desires of this child\'s parents to share the story of their early fears at her initial diagnosis and compare those to how well she has turned out.

Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations. In spite of other case reports, this case with features of both syndromes was reported by oral medicine specialists and oral and maxillofacial surgeons.
In this study, we reported an 18-months old female patient with gingival overgrowth. This phenomenon completely embedded all the erupted teeth. In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in the existing literature. Gingival overgrowth was excised under general anesthesia. At six months of follow-up after surgery, mastication and breathing problems were improved. Aesthetic aspects were ameliorated in terms of gingival appearance.
To date, due to the ambiguous presentations, both syndromes remain an enigma for specialists. A timely diagnosis could be crucial for prognosis and preventing severe further surcharge. Dentists could play an important role in the diagnosis of rare disorders.

UNASSIGNED: Pyknodysostosis is a rare genetic disorder characterized by skeletal and craniofacial abnormalities. It is an autosomal recessive disorder caused by mutations in the gene encoding cathepsin K. Pyknodysostosis is associated with short stature, brittle bones, and distinctive facial features.
METHODS: This case report presents the clinical manifestations, diagnostic challenges, and management strategies of an 8-year-old male with pyknodysostosis, an extremely rare genetic disorder characterized by skeletal and craniofacial abnormalities. The patient\'s clinical presentation, radiographic findings, genetic testing results, and treatment approach are discussed. Additionally, the importance of genetic counseling and multidisciplinary care in managing this condition is emphasized.
UNASSIGNED: A multidisciplinary approach involving orthopedics, genetics, dentistry, and psychological support is crucial for managing patients with pyknodysostosis. Regular follow-up visits, careful monitoring of fractures, and appropriate interventions can improve the patient\'s quality of life and reduce complications.
CONCLUSIONS: The importance of early recognition, genetic testing, and multidisciplinary care is emphasized for effective treatment and support. Further research is needed to enhance our understanding of this rare genetic disorder and develop targeted therapies.