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Australian Journal of General Practice 2022The presentation of a child with an abnormal head shape can be challenging and should be met with an appropriate clinical approach. Craniosynostosis is a common cause of...
BACKGROUND
The presentation of a child with an abnormal head shape can be challenging and should be met with an appropriate clinical approach. Craniosynostosis is a common cause of paediatric skull deformity and is best managed by a multispecialty tertiary referral unit with regular follow-up. As craniosynostosis frequently requires time-sensitive surgery, it is important to differentiate between craniosynostosis and common self-limiting conditions such as deformational plagiocephaly.
OBJECTIVE
The aim of this article is to outline the clinical approach to paediatric skull deformity in the general practice setting, and to highlight the importance of early referral if there is clinical suspicion of craniosynostosis.
DISCUSSION
Parental concern regarding infant head shape is common. General practitioners (GPs) have an important role in assessment, diagnosis and referral for paediatric skull deformities. GPs are well placed to clinically differentiate between deformational plagiocephaly and craniosynostosis and provide timely referrals to optimise patient outcomes.
Topics: Child; Craniosynostoses; Diagnosis, Differential; Humans; Infant
PubMed: 35098275
DOI: 10.31128/AJGP-09-20-5638 -
Otolaryngologic Clinics of North America Dec 2000This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's,... (Review)
Review
This article reviews a number of well-known syndromes involving craniofacial synostosis and associated midface deficiencies. Syndromes discussed include Apert's, Crouzon's, Saethre-Chotzen, and Carpenter's. Clinical characteristics and genetic defects are discussed. A general approach to surgical management is outlined.
Topics: Acrocephalosyndactylia; Adolescent; Craniosynostoses; Female; Humans; Infant, Newborn; Male; Prevalence; Plastic Surgery Procedures
PubMed: 11449786
DOI: 10.1016/s0030-6665(05)70280-2 -
Neurologia Medico-chirurgica May 2017The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple... (Review)
Review
The purposes of surgery for craniosynostosis are to release increased intracranial pressure and to normalize cranial shape. The procedure was developed from a simple strip craniectomy in practice which ranged from the removal of the fused suture before the 1960s to total calvarial remodeling after 1970s and later methods of the 1990s, such as distraction and its modifications. According to its history, craniofacial surgeons might be changing their procedures with more effective, than less invasive ways. Since the late 1990s, when the distraction was applied to the craniofacial surgery, the gradual expansion, in particular of the anterior cranium, common in Japan, has long been controversial until the Caucasians accepted its use for the posterior cranium. Currently, the method may revert to the old procedure because a more sophisticated and better morphological result can be obtained depending on the types of deformity, even if a little more invasive maneuver is required. In other words, if treatment can be performed in optimal time, the procedures that were developed in the last half a century should be altered to each condition.
Topics: Craniosynostoses; Humans
PubMed: 28413181
DOI: 10.2176/nmc.ra.2017-0006 -
Orthodontics & Craniofacial Research Feb 2023To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the...
OBJECTIVES
To analyse the prevalence and distribution of craniofacial microsomia (CFM) cases in Finland and their most frequent comorbidities. The second aim was to analyse the patients' need for specialized healthcare services.
MATERIALS AND METHODS
Data were gathered from two complementary registers: The Register of Congenital Malformations and the Care Register for Social Welfare and Health Care (Hilmo) of the Finnish Institute for Health and Welfare (THL).
RESULTS
The prevalence of CFM patients in Finland was 1:10 057. They were evenly distributed across the five university hospital districts. Their most frequently used ICD-10 diagnosis codes were F40-48 (Neurotic, stress-related and somatoform disorders), 60% of patients in adolescent and adult psychiatry; Q67.0 (Facial asymmetry), 43% in plastic surgery; Z00.4 (General psychiatric examination, not elsewhere classified), 31% in child psychiatry; Z31.5 (Genetic counselling), 28% in clinical genetics and Q67.40 (Other congenital deformities of the skull, face and jaw, Hemifacial atrophy), 18% in dental, oral and maxillofacial diseases. Of the patients, 70% had had visits in clinical genetics, 60% in plastic surgery, 41% in dental, oral and maxillofacial diseases, 28% in adolescent/adult psychiatry and 21% in child psychiatry. The majority of the patients' plastic surgery visits were concentrated in one university hospital. Other services were mainly provided by patients' own hospital districts.
CONCLUSIONS
Even though the majority of CFM patients' visits in specialized healthcare services are related to correction of facial asymmetry and ear malformations, the obvious need for psychiatric care was apparent in all age groups.
Topics: Child; Adult; Adolescent; Humans; Goldenhar Syndrome; Facial Asymmetry; Skull; Delivery of Health Care; Prevalence
PubMed: 35689427
DOI: 10.1111/ocr.12592 -
Child's Nervous System : ChNS :... Sep 2012More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth... (Review)
Review
PURPOSE
More than 60 different mutations have been identified to be causal in syndromic forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth factor receptor 2 gene (FGFR2). The clinical management of syndromic craniosynostosis varies based on the particular causal mutation. Additionally, the diagnosis of a patient with syndromic craniosynostosis is based on the clinical presentation, signs, and symptoms. The understanding of the hallmark features of particular syndromic forms of craniosynostosis leads to efficient diagnosis, management, and long-term prognosis of patients with syndromic craniosynostoses.
METHODS
A comprehensive literature review was done with respect to the major forms of syndromic craniosynostosis and additional less common FGFR-related forms of syndromic craniosynostosis. Additionally, information and data gathered from studies performed in our own investigative lab (lab of Dr. Muenke) were further analyzed and reviewed. A literature review was also performed with regard to the genetic workup and diagnosis of patients with craniosynostosis.
RESULTS
Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. All patients with FGFR-related syndromic craniosynostosis have some degree of hearing loss that requires thorough initial evaluations and subsequent follow-up.
CONCLUSIONS
Patients with syndromic craniosynostosis require management and treatment of issues involving multiple organ systems which span beyond craniosynostosis. Thus, effective care of these patients requires a multidisciplinary approach.
Topics: Acrocephalosyndactylia; Craniosynostoses; Follow-Up Studies; History, 20th Century; Humans; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Tomography, X-Ray Computed
PubMed: 22872262
DOI: 10.1007/s00381-012-1756-2 -
Plastic and Reconstructive Surgery Jun 2009Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with... (Review)
Review
BACKGROUND
Saethre-Chotzen syndrome is a syndromic craniosynostosis defined by a genetic mutation affecting the TWIST1 gene on chromosome 7p21. It is typically associated with unicoronal or bicoronal synostosis, eyelid ptosis, dysmorphic external ears, and other variable facial and limb abnormalities. Surgical management of the craniosynostosis addresses the calvarial deformity and may relieve or reduce the risk of intracranial hypertension. The aim of this study was to assess surgical intervention, with particular consideration of the reoperation rate for intracranial hypertension, in Saethre-Chotzen syndrome patients.
METHODS
A retrospective case note analysis was performed on all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit over a 15-year period. Each patient's mutation and clinical features were recorded. Surgical intervention and sequelae were examined in greater detail.
RESULTS
Thirty-four patients with genetically confirmed Saethre-Chotzen syndrome were identified. All had craniosynostosis (bicoronal, 76 percent; unicoronal, 18 percent; bicoronal and sagittal, 6 percent), and the majority had eyelid ptosis, low frontal hairline, and external ear anomalies. Thirty-one patients had received surgical intervention. Nine of 26 patients (35 percent) with at least 12 months of follow-up after primary intervention and eight of 19 patients (42 percent) with at least 5 years of follow-up developed intracranial hypertension necessitating secondary calvarial surgery.
CONCLUSIONS
Despite standard surgical intervention, patients with Saethre-Chotzen syndrome have a high rate (35 to 42 percent) of recurrent intracranial hypertension necessitating further surgical expansion. All patients with either bicoronal synostosis or unicoronal synostosis with syndromic features should be screened for TWIST1 mutations, as this confers a greater risk than nonsyndromic synostosis of the same sutures. Regular follow-up throughout the childhood years is essential.
Topics: Acrocephalosyndactylia; Child, Preschool; Craniosynostoses; Female; Gene Deletion; Humans; Infant; Intracranial Hypertension; Male; Nuclear Proteins; Point Mutation; Recurrence; Reoperation; Retrospective Studies; Twist-Related Protein 1
PubMed: 19483581
DOI: 10.1097/PRS.0b013e3181a3f391 -
Annals of the Royal College of Surgeons... Nov 1991
Topics: Craniofacial Dysostosis; France; History, 20th Century; Humans; Surgery, Plastic
PubMed: 1759761
DOI: No ID Found -
American Journal of Medical Genetics.... Dec 2010Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small... (Review)
Review
Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a primary cause of infant mortality and have serious lifetime functional, esthetic, and social consequences that are devastating to both children and parents alike. Comprehensive surgery, dental care, psychological counseling, and rehabilitation can help ameliorate-specific problems but at great cost over many years which dramatically affects national health care budgets. For example, the Center for Disease Control and Prevention estimates that the lifetime cost of treating the children born each year with cleft lip and/or cleft palate alone to be US$697 million. Treating craniofacial malformations, of which in excess of 700 distinct syndromes have been described, through comprehensive, well-coordinated and integrated strategies can provide satisfactory management of individual conditions, however, the results are often variable and rarely fully corrective. Therefore, better techniques for tissue repair and regeneration need to be developed and therapeutic avenues of prevention need to be explored in order to eliminate the devastating consequences of head and facial birth defects. To do this requires a thorough understanding of the normal events that control craniofacial development during embryogenesis. This review therefore focuses on recent advances in our understanding of the basic etiology and pathogenesis of a rare craniofacial disorder known as Treacher Collins syndrome and emerging prospects for prevention that may have broad application to congenital craniofacial birth defects.
Topics: Child; Forecasting; Humans; Infant; Mandibulofacial Dysostosis; Neural Crest; Neural Tube Defects
PubMed: 20734335
DOI: 10.1002/ajmg.a.33454 -
Clinical Oral Investigations Mar 2022To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial...
OBJECTIVES
To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group.
MATERIAL AND METHODS
We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. The control group consisted of 208 healthy children.
RESULTS
Cephalometric values comprising the midface were decreased in Muenke syndrome (ANB: β = -1.87, p = 0.001; and PC1: p < 0,001), Saethre-Chotzen syndrome (ANB: β = -1.76, p = 0.001; and PC1: p < 0.001), and TCF12-related craniosynostosis (ANB: β = -1.70, p = 0.015; and PC1: p < 0.033).
CONCLUSIONS
In this study, we showed that the midface is hypoplastic in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis compared to the Dutch control group. Furthermore, the rotation of the maxilla and the typical craniofacial buildup is significantly different in these three craniosynostosis syndromes compared to the controls.
CLINICAL RELEVANCE
The maxillary growth in patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is impaired, leading to a deviant dental development. Therefore, timely orthodontic follow-up is recommended. In order to increase expertise and support treatment planning by medical and dental specialists for these patients, and also because of the specific differences between the syndromes, we recommend the management of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis in specialized multidisciplinary teams.
Topics: Acrocephalosyndactylia; Adolescent; Basic Helix-Loop-Helix Transcription Factors; Cephalometry; Child; Child, Preschool; Craniosynostoses; Humans; Syndrome
PubMed: 34904178
DOI: 10.1007/s00784-021-04275-y -
Journal of Medicine and Life 2021Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result from abnormal development of...
Facial dysostoses are clinically and genetically heterogeneous conditions characterized by congenital craniofacial anomalies which result from abnormal development of the first two pharyngeal arches and their derivatives during embryogenesis. Mandibulofacial dysostosis Guion-Almeida type (MFDGA) is a rare and relatively new syndrome described in the literature, first identified by Guion-Almeida in 2000 and 2006. Another 108 cases have been documented after that. Prenatal diagnosis of this syndrome has not been described yet. Here we present the prenatal ultrasound findings in a case where MFDGA was confirmed after delivery. We suggest that MFDGA should be included in the prenatal differential diagnosis of syndromes with micrognathia and craniofacial anomalies.
Topics: Female; Humans; Intellectual Disability; Mandibulofacial Dysostosis; Peptide Elongation Factors; Pregnancy; Ribonucleoprotein, U5 Small Nuclear; Syndrome
PubMed: 35027977
DOI: 10.25122/jml-2020-0082