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She had marked micrognathia with a tracheostomy device insitu, and had bilaterally protruding ears that lacked lobules
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Background:
CHARGE syndrome (CS) is a rare genetic condition (OMIM #214800). The condition has a variable phenotypic expression. Historically, the diagnosis of CHARGE syndrome was based on the presence of specific clinical criteria. The genetic aetiology of CS has since been elucidated and attributed to pathogenic variation in the CHD7 gene (OMIM...
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Context 1
... flatness and a small nose with anteverted nostrils. Her lips were incompetent with a short philtrum (Fig. 1). The bilateral lower motor neuron facial nerve palsy resulted in the inability to display any facial expressions. She had marked micrognathia with a tracheostomy device in-situ, and had bilaterally protruding ears which lacked lobules (Fig. 2). The shape of the face and appearance of the ears are typical of CHARGE ...
Citations
... Generally, 90% of atresias are bony, and 10% are membranous [7]. Recently mixed atresia is affecting 70% of the cases [8]. ...
... Generally, 90% of atresias are bony, and 10% are membranous [7]. Recently mixed atresia is affecting 70% of the cases [8]. ...
Abstract
Background: Restenosis and reclosure of the choana are challenging complications after repair of choanal atresia.
Modifications to bone drilling with no injury to the surrounding nasal soft tissues may reduce postoperative reclosure.
Objectives: Our study aims to assess the effectiveness of piezoelectric device in the preservation of mucoperiosteal flaps
and its outcome in reducing postoperative granulation tissue formation and restenosis.
Patients and methods: In all, 20 patients with unilateral bony or bony membranous choanal atresia underwent removal
of the atretic plate using the piezoelectric device with preservation of the mucoperiosteal flap to cover the borders of the
neo-choana. Checkup of the cases ranged from 6 months to 2 years duration.
Results: Fifteen patients out of 20 showed patent choana postoperatively and throughout the follow-up period with a
success rate of 75%. Only five patients developed reclosure of the choana with a failure rate of 25%.
Conclusion: Results of the study revealed that drilling of the bony atretic plate using the piezoelectric device was
effective in the preservation of the mucoperiosteal flap, thus reducing the postoperative granulation tissue formation and
reclosure of the choana.
Keywords: Choanal atresia, Piezoelectricity, Reclosure, Transnasal endoscopic
... In addition, craniofacial and dental anomalies (such as oligodontia or delayed eruption of teeth) are also typical features found in patients with CHARGE syndrome. Dysfunction in the cranial nerves, especially I, V, VII, VIII, IX, X, and XI, is a typical symptom and found in 70-92% of patients [84,85]. A patient with CHARGE syndrome has a typically square-shaped face with a narrow bifrontal diameter, a prominent nasal bridge, a cleft lip, small nostrils, a small mouth, and a small chin. ...
Symmetry of the face is one of the most important features for the perception of attractiveness. Asymmetry of the face means that the right and left sides of the face are not identical. Subclinical facial asymmetry is very common in the general population. Most people have some slight facial asymmetry, and this is the normal biological situation in humans. Abnormalities from soft tissue, dental, and skeletal elements lead to facial asymmetry. Asymmetry has many causal factors, and its aetiology includes both congenital and acquired conditions. Neurological facial asymmetry is scarcely addressed in the dental literature. In this narrative review, we focus on the most common neurological causes of facial asymmetry. From a neurological point of view, facial asymmetry can result from disturbances of the cranial nerves, developmental disorders, or myopathies. In the broad range of differential diagnostics of facial asymmetry, neurological abnormalities should be taken into consideration. The treatment must be related to the underlying cause. Complete knowledge of the aetiological factors and the character of the asymmetry plays a crucial role in formulating a treatment plan.
... CHARGE syndrome [56][57][58] is characterized by a considerable phenotypic variability. Ear abnormalities are frequent (> 90%) and are an important clinical clue for diagnosis in those cases with no additional major criteria [59]. ...
In this article, we describe the advances in the field of pediatrics that have been published in the Italian Journal of Pediatrics in 2020. We report progresses in understanding allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, orthopedics, respiratory tract illnesses, rheumatology in childhood.
... 214800) представляет собой редкое генетическое заболевание с аутосомно-доминантным типом наследования, в основе которого лежат мутации в гене CHD7. Частота заболеваемости колеблется от 1:12 000 до 1:15 000 новорожденных [1,2]. ...
... с вовлечением в патологический процесс более чем одного органа. Однако точной корреляции между типом мутации и степенью выраженности клинических проявлений сопутствующих дефектов даже среди пациентов с идентичными мутациями не отмечено [2,[10][11][12]. Наиболее частой эндокринной аномалией, обнаруживаемой при синдроме CHARGE, является гипогонадотропный гипогонадизм (60-80% случаев). ...
CHARGE syndrome is a rare autosomal dominant disease caused by CHD7 gene mutations. Individuals with CHARGE display a wide spectrum of clinical features. It might be presented only as a delay puberty, which does not require any hormone replacement therapy to severe CHARGE phenotype, requiring a multidisciplinary therapeutic approach. Wild spectrum of clinical presentation can be seen even among the patients with identical mutation. Diagnosis might be suspected by a combination of major and minor clinical criteria of this disorder, but molecular genetic analysis is mandatory for final verification. Accurate diagnosis is essential to informing patients about all possible clinical features, reproductive status and choosing the correct treatment approach. The most common endocrine abnormality in patients with CHARGE syndrome is the disturbance in gonadotropins function ranged from delay puberty to persistent hypogonadotropic hypogonadism with different olfactory phenotypes, resulted by specific role of CHD7 in GnRH neuronal embryogenesis.
We describe a familial case of CHARGE syndrome with significant intrafamilial clinical heterogeneity due to CHD7 gene mutation.
... 56 Chronic airway problems and aspiration arising from abnormalities in the nasopharyngeal pathway might also prompt the use of tracheostomy while jejunostomy or gastrostomy feeding tubes may be required for the associated feeding difficulties. 57 A pediatric anesthesiologist should be consulted preoperatively to decide on the optimal intraoperative ventilation mechanism and to preside over intubation efforts, which frequently fail. Cardiology consultation should be sought in infants with suspected CHARGE syndrome, as the possible presence of a patent ductus arteriosus would require prostaglandin therapy to promote ductal patency. ...
Hearing loss is a prominent feature in multiple genodermatoses. Underappreciation of auditory deficits can misdirect proper diagnosis by the treating dermatologist. This review sums up the anatomical, developmental, and embryological aspects that characterize the ear and provides a summary of genodermatoses with aberrant auditory findings. The latter are classified into neural crest, metabolic, pigmentary, craniofacial and a miscellaneous category of disorders lacking specific cutaneous findings. The algorithms provided in this review enable treating dermatologists to better recognize, and subsequently manage, genodermatoses with ear involvement.
This chapter reviews the epidemiology, etiology, and genetic risk factors for syndromic and non‐syndromic orofacial clefting (OFC), as well as genetic counseling for affected families. Maternal smoking during pregnancy is the most replicated risk factor for OFC. OFCs show strong familial aggregation, which suggests a strong genetic component to their etiology. Features of OFC have been recognized in over 460 conditions with known molecular basis. The chapter summarizes the main clinical characteristics, genetic etiology, and biological mechanisms underlying cleft syndromes most often seen in a clinical setting. Van der Woude syndrome is an autosomal dominant condition that affects 1/35,000 individuals and accounts for 2% of orofacial clefts. Different types of genetic studies allow researchers to map genes in the absence of a well‐defined model of inheritance. There are two general types of statistical approaches – “linkage analysis” and “association analysis.”
Charge syndrome is an uncommon condition defined by a number of congenital abnormalities that are inherited in an autosomal dominant way. We provide a case report to improve physician experience and understanding of Charge syndrome diagnosis using clinical diagnostic criteria. A 10-year-old male child was admitted with complaints of bluish discoloration of fingers and lips beginning at 1 year of age, weakness of the left side of the body from last 4 months, and involuntary movements of the left upper limb from past 2 months. In our instance, the patient received symptomatic medical care, surgical care for heart abnormalities and dysmorphic characteristics was provided with parental counselling, and physical and occupational therapy was provided. According to the current case report, the diagnosis of isolated dysmorphism necessitates a comprehensive examination and research to check for syndromic connection.
Combined immune deficiencies (CIDs) are a heterogeneous group of inherited immune disorders characterized by impaired development, function, or both of T lymphocytes, with variable B cell defects. Among CIDs, a group of disorders is associated with syndromic features. The term CID syndromes apply to disorders in which other clinical features are present in addition to immunodeficiency. CID with associated or syndromic features comprises nine major categories including congenital thrombocytopenia, DNA repair defects, immunoosseous dysplasias (IODs), thymic defects with additional congenital anomalies, hyper-immunoglobulin E syndromes, dyskeratosis congenital, defects of vitamin B12 and folate metabolism, anhidrotic epidermodysplasia with ID and others. Most patients belonging to this group of primary immunodeficiency disorders manifest severe infections caused by opportunistic organisms, chronic diarrhea, failure to thrive, and recurrent and chronic respiratory infections. These patients present with less severe complications in the first year of life than severe CID patients, as evidence of immunodeficiency may be initially absent, whereas other clinical complications are present. Because syndromic CID can present initially with nonimmunologic manifestation, the various medical specialists involved in these cases should be aware of the signs and symptoms of this PID category.
