The craniofacial region contains skin, bones, cartilage, the temporomandibular joint (TMJ), teeth, periodontal tissues, mucosa, salivary glands, muscles, nerves, and blood vessels. Applying tissue engineering therapeutically helps replace lost tissues after trauma or cancer. Despite recent advances, it remains essential to standardize and validate the most appropriate animal models to effectively translate preclinical data to clinical situations. Therefore, this review focused on applying various animal models in craniofacial tissue engineering and regeneration. This research was based on PubMed, Scopus, and Google Scholar data available until January 2023. This study included only English-language publications describing animal models\' application in craniofacial tissue engineering (in vivo and review studies). Study selection was based on evaluating titles, abstracts, and full texts. The total number of initial studies was 6454. Following the screening process, 295 articles remained on the final list. Numerous in vivo studies have shown that small and large animal models can benefit clinical conditions by assessing the efficacy and safety of new therapeutic interventions, devices, and biomaterials in animals with similar diseases/defects to humans. Different species\' anatomical, physiologic, and biological features must be considered in developing innovative, reproducible, and discriminative experimental models to select an appropriate animal model for a specific tissue defect. As a result, understanding the parallels between human and veterinary medicine can benefit both fields.

IDDBCS is a heterogeneous genetic syndrome with diverse clinical features including Intellectual disability and epilepsy. Using WES, Sanger sequencing, we identified a novel nonsense variant in the PHF21A gene responsible for IDDBCS syndrome. The patient has diverse and overlapping clinical phenotypes. The identified variant leads to abnormal secondary and tertiary structure of the protein and, consequently, affects its function.

To date, there have been no reports of patients showing a Tessier number 7 cleft with unilateral complete cleft lip and palate. Furthermore, no studies have established the sequence, plan, or timing of surgical methods for treating patients presenting the above anomalies simultaneously. We report a case of a Tessier number 7 cleft with unilateral complete cleft lip and palate. Two months after birth, lip adhesion was performed on the unilateral complete cleft lip and total excision was performed on the skin tag. At 4 months of age, Tessier number 7 cleft was corrected. At 6 months of age, surgery involving two small triangular flaps was performed on the unilateral incomplete cleft lip after performing lip adhesion. At 13 months of age, two-flap palatoplasty with a vomer flap was performed on the complete cleft palate. At 6 years of age, open rhinoplasty was performed on the unilateral cleft lip nose deformity. At 9 years of age, bone grafting was performed for the alveolar cleft. At follow-up appointments up to 13 years of age, there were no major complications. Here, we present this patient, surgical procedures and timelines, and show our results demonstrating good postoperative outcomes.

Dubowitz syndrome is a relatively rare genetic and developmental disorder. An eight-year-old female presented with a complaint of drooping in her left eye since birth. She had undergone ptosis surgery two years back. There was a history of delayed speech and delayed dentition. She was of moderate built appropriate to her age. There was microcephaly, sparse hair, flat bridge of the nose with a prominent rounded tip, short stature, low-set ears, and micrognathia with subsequent protrusion of upper two incisors. Based on the clinical features a diagnosis of Dubowitz syndrome with left recurrent ptosis was made. She underwent frontalis sling surgery and had a satisfactory outcome.

Tessier 7 clefts are a rare congenital anomaly, usually surgically repaired with Z-plasty or other reconstructive methods, although undesirable scars may result. We present a review of the literature and a case of unilateral Tessier 7 cleft repaired with a novel reconstruction technique using a combined Z-plasty and geometric broken line closure (GBLC) to camouflage and irregularize the otherwise linear scar. We present this case to expand the armamentarium of surgical options to address Tessier 7 clefts and to review techniques for repair.

Cleft palate is a frequent congenital craniofacial malformation of unknown etiology. Transforming growth factor (TGF) β3 is required for palatal shelf fusion. Although TGFβ3 knockout (KO) mice are widely used mouse models for cleft palate, cleft palate phenotypes differ among these mice. This study aimed to determine the effects of genetic background on the cleft palate phenotype in mice.
We produced TGFβ3 KO congenic mouse strains with five different genetic backgrounds. The phenotypes of the congenic strains were determined by visual examination. The capacity for disintegration of the medial edge epithelium (MEE) and basement membrane (BM) of palatal shelves of all five mouse strains was analyzed by using immunofluorescence staining after single palatal shelf suspension culture. The relationship between phenotype and disappearance of the MEE and BM was analyzed.
Although the five congenic strains carried the same defective Tgfb3 gene, the fetal palate phenotypes differed among strains. The loss of the MEE cells and BM also differed with the genetic background, and the degree of such loss correlated with the cleft palate phenotype.
The cleft palate phenotype in mice is influenced by the genetic background, which governs the capacity for MEE and BM disintegration.

Uremic leontiasis ossea (ULO), which occurs in the craniomaxillofacial region, is a sign of terminal stage osteitis fibrosa cystica or brown tumors and primarily caused by secondary hyperparathyroidism induced by renal failure. Pathophysiological changes include osteoclasts or osteoblasts proliferation, bone resorption, bone decalcification, and connective tissue proliferation. In this paper, we report a case of a 24-year-old female patient, who was diagnosed with ULO and presented with multiple facial swellings. Imaging features included zonal patterns with alternating rings of hypo- and hyperattenuated craniomaxillofacial bones, and diffused mixed sclerotic tissues with lytic changes in CT imaging. T1 weighted image and T2 weighted image in MRI were characterized by alternating rings of low and intermediate signal intensity patterns. To the best of our knowledge, this case is the first example of pathologically proved ULO with maxillofacial MRI.

Craniofacial cleft is a rare disease, and has multiple variations with a wide spectrum of severity. Among several classification systems of craniofacial clefts, the Tessier classification is the most widely used because of its simplicity and treatment-oriented approach. We report the case of a Tessier number 3 cleft with wide soft tissue and skeletal defect that resulted in direct communication among the orbital, maxillary sinus, nasal, and oral cavities. We performed soft tissue reconstruction using the straight-line advanced release technique that was devised for unilateral cleft lip repair. The extension of the lateral mucosal and medial mucosal flaps, the turn over flap from the outward turning lower eyelid, and wide dissection around the orbicularis oris muscle enabled successful soft tissue reconstruction without complications. Through this case, we have proved that the straight-line advanced release technique can be applied to severe craniofacial cleft repair as well as unilateral cleft lip repair.

We report the clinical and neuroradiological findings in a young boy harboring the 9p deletion syndrome including the novel findings of thalamic infarction and germinal matrix haemorrhage and neonatal hyperinsulinemic hypoglycemia. Both the hypoglycemic events and the ventriculomegaly found in this patient have previously only been reported in two patients, while the thalamic infarction and germinal matrix haemorrhage are novel features.

BACKGROUND: Citation analysis is a recognized scientometric method of classifying cited articles according to the frequency of which they have been referenced. The total number of citations an article receives is considered to reflect it\'s significance among it\'s peers.
METHODS: Until now, a bibliometric analysis has never been performed in the specialty of craniofacial anomalies and craniofacial surgery. This citation analysis generates an extensive list of the 50 most influential papers in this developing field. Journals specializing in craniofacial surgery, maxillofacial surgery, plastic surgery, neurosurgery, genetics and pediatrics were searched to demonstrate which articles have cultivated the specialty within the past 55 years.
RESULTS: The results show an intriguing compilation of papers which outline the fundamental knowledge of craniofacial anomalies and the developments of surgical techniques to manage these patients.
CONCLUSIONS: This citation analysis provides a summation of the current most popular trends in craniofacial literature. These esteemed papers aid to direct our decision making today within this specialty.