Microsomia

BACKGROUND: Oculoauriculovertebral Spectrum (OAVS) encompasses a wide variety of anomalies on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular and vertebral anomalies. We present the genetic findings of a large three-generation family with multiple members affected with macrostomia, preauricular tags and uni- or bilateral ptosis following an autosomal dominant segregation pattern. METHODS: We generated whole genome sequencing data for the proband, affected parent and unaffected paternal grandparent followed by Sanger sequencing on 23 family members for the top 10 candidate genes: KCND2, PDGFRA, CASP9, NCOA3, WNT10A, SIX1, MTF1, KDR/VEGFR2, LRRK1 , and TRIM2 ...

Objective: To study the clinical and CT features of the abnormal whole-course wide of eustachian tube (AWWET) with microtia and atresia(MA). Methods: The clinical and CT data of 19 patients (20 ears) from January 2017 to December 2021 with AWWET with MA were retrospectively analyzed, including 15 males and 4 females. The age ranged from 5 to 16 years, with an average of 9.5 years. 50 patients with common MA without wide eustachian tube(ET) as a case control group, including 32 males and 18 females.The age ranged from 5 to 16 years, with an average of 9...

The aim of this study is to present a sequential strategy of soft-tissue, non-osteogenic distraction with a novel device, followed by microvascular bony reconstruction for severe cases of mandibular hypoplasia. The case of a 21-year-old woman with Goldenhar syndrome is presented, whose mandible remained severely hypoplastic despite previous attempts at distraction and was not suitable for further osteogenic distraction. Soft tissue deficiency and pin track scarring prevented free fibular transfers. A personalized distractor, anchored to the cranium and the mandibular symphysis, was designed to expand the soft tissues while allowing for physiological temporomandibular joint (TMJ) movement without compression forces...

BACKGROUND: Injecting botulinum toxin into the submandibular glands (SMG) can treat drooling symptoms in neurological diseases and improve the aesthetics of SMG hypertrophy and ptotic SMG. OBJECTIVES: This study defined the size and position of the SMG using high-frequency ultrasound and performed statistical analysis to improve the treatment safety and accuracy of botulinum toxin injection therapy. METHODS: Neck ultrasonography with high-frequency ultrasound was performed on 214 volunteers...

We present a case of a patient with achondroplasia, hemifacial microsomia and an fibroblast growth factor receptor3 c.138G>A mutation. An association between the 2 conditions has not been previously described, but there is biological plausibility that the etiology of the 2 conditions is linked.

OBJECTIVE: To describe the early health care experiences of parents of children with craniofacial microsomia (CFM), a congenital diagnosis often identified at birth. DESIGN: Qualitative descriptive. SETTING: Homes of participants. PARTICIPANTS: Parents of 28 children with CFM from across the United States. METHODS: We interviewed participants (27 mothers individually and one mother and father together) via telephone or teleconference and used reflexive thematic analysis to derive themes that represented early health care experiences of parents of children with CFM...

BACKGROUND: Mandibular distraction osteogenesis (MDO) is a major part of the treatment for hemifacial microsomia patients. Due to the narrow surgical field of the intraoral approach, osteotomy accuracy is highly dependent on the surgeons' experience. Electromagnetic (EM) tracking systems can achieve satisfying accuracy to provide helpful real-time surgical navigation. Our research team developed an EM navigation system based on artificial intelligence, which has been justified in improving the accuracy of osteotomy in the MDO in animal experiments...

This study aims to compare the effects of mandibular distraction osteogenesis (MDO) and bone grafting on the facial symmetry of children with Pruzansky-Kaban type IIB and III craniofacial microsomia (CFM). Medical records and three-dimensional computed tomography (3D-CT) data of CFM patients who had primarily undergone MDO and bone grafting were collected. A retrospective analysis of pre-and post-operative 3D imaging data was conducted to compare the improvement rate in facial symmetry between the two groups based on occlusal cant, affected/unaffected ramus height ratio and chin point deviation...

Hemifacial Microsomia (HFM) is the second most common congenital craniofacial malformation syndrome, and the complexity of HFM makes its treatment challenging. The present study aimed to introduce a new approach of utilization of virtual surgical planning (VSP) and 3D-printed surgical adjuncts for maxillofacial reconstruction. Five HFM patients were included in this study. All participants were provided with a full VSP, including the design of osteotomy lines, the design and fabrication of 3D-printed cutting guides, fixation plates, and titanium mesh for implantation...

The study analyzed vascular variations in microtia associated with hemifacial microsomia (HFM). A retrospective analysis was conducted on 47 patients with microtia and HFM, who underwent computed tomography angiography between November 2011 and May 2022. The vascular course and branching supplying the TPF were analyzed. Craniometric measurements were conducted to determine the horizontal distance from the porion and fronto-zygomatic suture (F-Z suture) to the vessels. On the affected side, the TPF was primarily supplied by either the superficial temporal artery (STA) or the postauricular artery-originated STA (Po-STA)...

BACKGROUND: Craniofacial microsomia (CM) is characterized by changes in the first and second branchial arches. It is a clinical condition whose etiology is still uncertain, but studies have shown that genetic, nutritional, and environmental factors can result in disorders of blastogenesis of the branchial arches. This study evaluates gestational aspects, focusing on possible risk factors associated with CM. METHODS: This is a case-control study conducted with patients monitored at a medical genetics service and compared to a control group of patients without evidence of malformations, born in a mother and child hospital, both located in Porto Alegre, Southern Brazil...

OBJECTIVE: This study aimed to investigate the prevalence of obstructive sleep apnoea (OSA) in patients with craniofacial microsomia (CFM) through polysomnography (PSG) and the relationship with the severity of CFM. METHODS: This study reviewed patients of CFM with pre-operative PSG data between January 2005 and September 2023. Patients were grouped according to the Pruzansky-Kaban classification. OSA was diagnosed and severity was assessed by the obstructive apnea-hypopnea index...

BACKGROUND: Facial areas attracting the most visual attention in Hemifacial Microsomia (HFM) are poorly understood. Further, it is not clear if and how visual attention changes from pre- to post-operatively. This study characterized layperson visual attention to pre- and post-reconstruction hemifacial microsomia (HFM) using eye-tracking technology. METHODS: Visual fixations (Tobii Pro Nano) were recorded in four areas of interest from sixty participants completing two consecutive trials of 68 total images in each hemi-face of 17 patients with HFM pre- and post- orthognathic jaw reconstruction...

OBJECTIVES: This article describes the many anomalies within and outside the head and neck of hemifacial microsomia (HFM). METHODS: The OMENS+ classification system is described with particular reference to the mandibular features classified by Pruzansky and modified by Kaban. The application of virtual surgical planning (VSP) to HFM, largely in children, is described and taken through to aspects indicated in maturity. RESULTS: VSP is demonstrated with clinical cases examples in HFM patients for (1) grafts and flaps replacing missing parts of the zygomatic bone, temporo-mandibular joint and mandible, (2) distraction osteogenesis for lengthening of the mandibular ramus, advancement of the mandibular body, widening of the face and simultaneous mid-face and mandibular rotation, (3) implants and correction of microtia for bone anchored ear prostheses, (4) correction of microtia by autogenous ear construction, and (5) end stage rotational bimaxillary osteotomies...

Total joint reconstruction (TJR) has become the most preferred method of reconstruction in recent years for hemifacial microsomia (HFM). This requires meticulous planning for the glenoid fossa and ramus prosthesis along with the arch in certain indications. TJR in a type V HFM is extremely challenging due to agenesis/hypolasia of the zygoma and arch which compromises anchorage of the glenoid prosthesis. Conventional options used for such indications incorporate extended designs for the fossa. However, the two designs used commonly are associated with limitations; (i) the temporal extension is overtly large and cannot be anchored in patients with thin temporal bone and (ii) the glenoid fossa incorporated into the arch prosthesis, where the fossa is not positioned on stable bone and occlusal loading is non-physiological; transmitted onto the arch prosthesis rather than the skull base...

BACKGROUND: There is no report about the definition, classification and clinical epidemiological study of congenital ear malformation (CEM). Aims/Objectives: To investigate the definition, clinical classification and distribution of a large number of CEM cases, along with the clinical and epidemiological characteristics associated with congenital malformation of the middle and outer ear (CMMOE). MATERIAL AND METHODS: A total of 3231 cases (4714 ears) with CEM and related malformations were retrospectively analyzed, including 2,658 cases (4,064 ears) CEM and 573 cases (650 ears) preauricular fistulas and accessory ears, specifically related malformations to CEM...

This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients...

OBJECTIVE: The severity of craniofacial microsomia (CFM) is generally classified using the Orbit, Mandible, Ear, Soft tissue, Nerve (OMENS) classification score. The global assessment of the Phenotypic Assessment Tool for Craniofacial Microsomia (PAT-CFM), is a pictorial modification of the OMENS classification. The aim of this study was to assess the interrater reliability of the PAT-CFM global assessment score. DESIGN: In this prospective cohort study, three clinicians completed the global assessment form of the PAT-CFM...

The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand-alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied...

This article reviews the most common craniofacial syndromes encountered in clinical practice. Key physical features of each condition are highlighted to aid in accurate recognition and diagnosis. Optimal individualized treatment approaches are discussed.