Velopharyngeal insufficiency, speech, and language impairment in craniofacial microsomia: a scoping review.

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.

Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia.

Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals.

The effect of natural growth on chin point deviation in patients with unilateral craniofacial microsomia: A retrospective study.

This study aimed to investigate the potential progressiveness of mandibular asymmetry and to study factors that influence chin point deviation in patients with unilateral craniofacial microsomia (CFM). Paediatric patients with unilateral CFM with available radiologic imaging and medical photographs were included. Chin point deviation was measured on clinical photographs.

A decade of clinical research on clinical characteristics, medical treatments, and surgical treatments for individuals with craniofacial microsomia: What have we learned?

Aim: This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinical research.

Method: A systematic search of literature was conducted in Embase and PubMed/MEDLINE Ovid.

Hearing impairment and ear anomalies in craniofacial microsomia: a systematic review.

The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their prevalence. Sixty-two records including 5122 patients were included. Ear anomalies were present in 52-100% of patients.

Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study.

The aim of this multicentre retrospective cohort study was to describe and categorize the types of ocular and adnexal anomalies seen in patients with craniofacial microsomia (CFM) and to determine their prevalence. In addition, the relationship between the OMENS-Plus and Pruzansky-Kaban classification for each patient and the presence of ocular anomalies was investigated. A total of 881 patients with CFM from four different craniofacial centres were included.

Congenital Ossification Defects of the Frontal Bone: Description of a Novel Clinical Entity and the Management of Four Patients.

Embryologic development of the frontoorbital region is complex and is affected by a series of pathologies. These primarily represent failures of fusion at the interface between the frontal bones and the skull base or between the frontal bones themselves, or frontal bone defects in association with atypical craniofacial clefts or cutis aplasia. Isolated ossification defects in the frontal bones themselves are rare, with only 1 case having been previously reported.

Dental anomalies in craniofacial microsomia: A systematic review.

Objective:  To provide an overview on the prevalence and types of dental anomalies in patients with craniofacial microsomia (CFM). Eligibility criteria: Inclusion criteria were CFM and dental anomalies. The following data were extracted: number of patients, methodology, mean age, sex, affected side, severity of mandibular hypoplasia, dentition stage and dental anomalies.

Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients.

Craniofacial microsomia (CFM) is characterized by unilateral or bilateral underdevelopment of the facial structures arising from the first and second pharyngeal arches, but extracraniofacial anomalies may also be present. This retrospective study provides an overview of the prevalence, types, and characteristics of extracraniofacial anomalies in patients with CFM. All patients diagnosed with CFM seen at four craniofacial centres were included.

Vertebral anomalies in craniofacial microsomia: a retrospective analysis of 991 patients.

Craniofacial microsomia (CFM) is characterized by an underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial anomalies such as vertebral anomalies may be present. This retrospective study was performed to determine the prevalence and types of vertebral anomalies and the association with other extracraniofacial anomalies in patients with CFM. The charts of all patients diagnosed with CFM seen in four craniofacial centres were reviewed for the presence of vertebral anomalies, symptoms, extracraniofacial anomalies, and the OMENS classification including the Pruzansky-Kaban type of mandibular deformity.

Feeding difficulties in craniofacial microsomia: A multicenter retrospective analysis of 755 patients.

A retrospective cohort study was initiated to analyse the prevalence, risk factors and treatment modalities of feeding difficulties in patients with craniofacial microsomia. This study included 755 subjects with craniofacial microsomia from three craniofacial centres. Medical charts were reviewed for severity of the deformity, documented feeding difficulties, age at which feeding difficulties first presented and treatment, presence of cleft lip/palate, extracraniofacial anomalies, and obstructive sleep apnoea.

Central nervous system anomalies in craniofacial microsomia: a systematic review.

Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted.

Vertebral anomalies in craniofacial microsomia: a systematic review.

Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted.

Two-Stage Cranioplasty: Tissue Expansion Directly over the Craniectomy Defect Prior to Cranioplasty.

Performing a skull reconstruction for a long-term existing large cranium defect usually needs either skin enhancement or skin flaps and cranioplasty. This procedure can be accompanied with aesthetic and functional complications. The presented case describes a 27-year-old man in need of a cranial reconstruction following decompressive craniectomy as treatment for severe traumatic brain injury.

Feeding difficulties in craniofacial microsomia: a systematic review.

Patients with craniofacial microsomia are at higher risk of developing obstructive sleep apnoea (OSA), as described in the previous article entitled "Obstructive sleep apnoea in craniofacial microsomia: a systematic review". These patients are also more likely to develop feeding difficulties. The present systematic review provides an overview of the literature on the prevalence, treatment, and follow-up of feeding difficulties in children with craniofacial microsomia (CFM).

Obstructive sleep apnoea in craniofacial microsomia: a systematic review.

Children with craniofacial microsomia (CFM) are at risk of obstructive sleep apnoea (OSA). This systematic review provides an overview of the literature on the prevalence of OSA in children with CFM. A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and OSA.

Blowout fracture in a 3-year-old.

A 3-year-old patient was referred to the oral and maxillofacial department with a fracture of the orbital floor. Due to the lack of clinical symptoms, a conservative approach was chosen. After 3 weeks, an enophthalmos developed.

Mandibular reconstruction in the growing patient with unilateral craniofacial microsomia: a systematic review.

The purpose of this systematic review is to provide an overview of the surgical correction of the mandible in unilateral craniofacial microsomia (UCM) performed in the growing patient, and its long-term outcome and stability. The following databases were searched: PubMed, Embase, Cochrane, and Web of Science. Articles reporting prospective and retrospective studies of patients not older than 16 years (N ≥ 4) who had undergone surgical correction of a craniofacial microsomia spectrum condition using grafts, osteotomies, distraction, or combinations of these, were reviewed.

Genetic variation may modify ovarian reserve in female childhood cancer survivors.

Study Question: Are genetic polymorphisms, previously identified as being associated with age at menopause in the healthy population, associated with ovarian reserve and predicted age at menopause in adult long-term survivors of childhood cancer?

Summary Answer: The CT genotype of rs1172822 in the BRSK1 gene is associated with lower serum anti-Müllerian hormone (AMH) levels and a younger predicted age at menopause in adult survivors of childhood cancer.

What Is Known Already: Gonadotoxicity is a well-known late side effect of chemotherapy and radiotherapy in adult survivors of childhood cancer. In the healthy population, several genetic polymorphisms are associated with age at natural menopause.