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'Choanal Atresia' (1296)


Mar
2018

Infants with syndromic cleft lip and/or cleft palate (CL/P) often require more complex care than their nonsyndromic counterparts. Our purpose was to (1) determine the prevalence of CL/P in patients with CHARGE syndrome and (2) highlight factors that affect management in this subset of children.
This is a retrospective review from 1998 to 2016.

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Feb
2018

 Choanal atresia is a rare abnormality. As neonates depend on transnasal respiration, bilateral choanal atresia causes an acute emergency. Transnasal endoscopic resection of congenital choanal atresia is a well-established therapy.

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Jan
2018

To compare the outcomes of endoscopic repair of bilateral congenital choanal atresia using a flap technique without stenting versus endoscopic repair using stenting without a flap.
A prospective randomised controlled study was conducted, comprising 72 patients with bilateral congenital choanal atresia. The patients were randomised into two groups.

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Feb
2018

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism.

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Dec
1969

We report a Japanese female patient presenting with classic features of CHARGE syndrome, including choanal atresia, growth and development retardation, ear malformations, genital anomalies, multiple endocrine deficiency, and unilateral facial nerve palsy. She was clinically diagnosed with typical CHARGE syndrome, but genetic analysis using the TruSight One Sequence Panel revealed a germline heterozygous mutation inwith no pathogenicalterations associated with CHARGE syndrome. Kabuki syndrome is a rare multisystem disorder characterized by five cardinal manifestations including typical facial features, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate intellectual disability, and postnatal growth deficiency.

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Dec
1969

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis.

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Dec
1969

Kemal Ö, Atmaca S, Bel-Çeçen A, Düzgün B, Aygün HC. The use of nasal trumpet as a non-invasive treatment method in congenital nasal stenosis. Turk J Pediatr 2017; 59: 210-213.

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Dec
2017

CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%.

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Dec
2017

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia.

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Mar
2018

Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations.

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Jan
2018

Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail.

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Dec
2017

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.

Am J Med Genet C Semin Med Genet 2017 Dec 31;175(4):407-416. Epub 2017 Oct 31.
Margaret A Hefner, Emily Fassi
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies.

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Dec
1969

Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reducedexpression and FGF signaling in the mid-hindbrain region of embryos heterozygous for, the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However,animals only exhibit mild cerebellar vermis anomalies.

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Oct
2017

Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelid, structural cardiac abnormalities, conductive and sensorineural hearing loss, and cleft lip. Recently, causative compound heterozygous variants were identified in TXNL4A. We analyzed an individual with clinical features of BMKS and her parents by whole-genome sequencing and identified compound heterozygous variants in TXNL4A (a novel splice site variant (c.

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Oct
2017

The aim of choanal atresia (CA) surgery is to achieve bilateral nasal patency. Among the different methods of CA repair, the endoscopic transnasal approach has gained recent popularity with the advent of endoscopic instruments and techniques. This article describes our experience regarding CA repair that was done either using or not using a stent in different periods of time in our department.

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Oct
2017

Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of methimazole (MMI) and propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects.
Swedish nationwide register-based cohort study.

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Jul
2017

We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East.

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Jan
2017

Chondrodysplasia punctata is abnormal calcification in the cartilage of developing bones and has been seen in association with deranged vitamin K metabolism. Warfarin, an oral anticoagulant acting on vitamin K dependent clotting factors is known to cause chondrodysplasia punctata. Despite the knowledge of the condition the management of patients with prosthetic heart valves might require use of the drug for anticoagulation.

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Jul
2017

 The main histological features of the nasal mucosa in choanal atresia are distorted cilia, marked increase of mucous submucosal glands associated with marked reduction of goblet cell density, and lymphocytic cellular infiltration. To study the nasal mucosal changes in cases of choanal atresia after successful repair compared with pre-repair mucosal histological features. Tissue samples were taken from the inferior turbinate of 3 patients (1 bilateral and 2 unilateral) who were successfully operated.

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Dec
1969

Adult choanal atresia is a rare congenital malformation of the nasal cavity characterized by the complete obliteration of the posterior choanae, only ninth cases are reported in the literature, we present in our observation the tenth case of adult bilateral choanal atresia.
A 18-year-old man presented at our department with complaints of nasal obstruction, nasal discharge, snoring, anosmia, and mouth breathing since childhood. Endoscopic examination and paranasal sinus tomography revealed bilateral choanal atresia.

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Jun
2017

Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo-Auriculo-Vertebral Spectrum are conditions that share common craniofacial phenotype and present a challenge in arriving at a diagnosis. In this report, we present a case of female proband who was given a differential diagnosis of Treacher Collins syndrome or Hemifacial Microsomia without certainty.

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Aug
2017

We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene.
A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17.

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Jul
2017

To present results of a one-stage minimally invasive surgical procedure for congenital choanal atresia (CCA). Seven outcome measures were applied.
Retrospective study conducted between 1999 and 2015.

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Oct
2017

In the last 20 years, neonatal survival has progressively increased due to the constant amelioration of neonatal medical treatment and surgical techniques. Thus, the number of children with congenital malformations and severe chronic pathologies who need rehabilitative care has progressively increased. Rehabilitation programs for paediatric patients with disorders of voice, speech and language, communication and hearing, deglutition and breathing are not widely available in hospital settings or in long-term care facilities.

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Jun
2017

The purposes of this study were to report our experience with endoscopic treatment of choanal atresia (CA), to illustrate our surgical technique and analyse the different factors that may affect outcomes.
A retrospective review was performed of patients affected by congenital CA and treated between June 1996 and November 2013 at three referral centres which follow a uniform policy.
Eighty-four patients with CA (55 unilateral and 29 bilateral), aged between one day and 76 years (mean, 13 years) were included.

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Apr
2017

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution.

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May
2017

CASE DESCRIPTION A 4-hour-old 6.3-kg (13.9-lb) female alpaca cria was evaluated because of severe respiratory distress and difficulty nursing since birth.

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Oct
2017

The objective of this study was to evaluate the volume of paranasal sinuses (PNS) and turbinate in patients with unilateral choanal atresia (CA).
Computed tomography images of PNS in 11 individuals with unilateral CA were evaluated retrospectively. Mucosal thickness and volume of the maxillary, frontal and sphenoidal sinuses were determined, in addition to the volume of the middle and inferior turbinate.

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Mar
2017

Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with 12 reported patients to date. Additional features, previously described, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay, facial dysmorphism, osteopenia, sensorineural deafness, choanal atresia, craniosynostosis and pancreatic exocrine insufficiency.
We report a new case for consanguineous parents with homozygous novel mutation in GLIS3 gene who presented with neonatal diabetes mellitus, severe resistant congenital hypothyroidism, cholestatic liver disease, bilateral congenital glaucoma and facial dysmorphism.

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Dec
1969

It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level.

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Dec
1969

Craniofacial development is a complex process that involves sequential growth and fusion of the facial prominences. When these processes fail, congenital craniofacial anomalies can occur. For example, choanal atresia (CA) is a congenital craniofacial anomaly in which the connection between the nasal airway and nasopharynx is completely blocked.

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Jan
2017

Many faces of SMCHD1.

Nat Genet 2017 Jan;49(2):176-178
Andrew O M Wilkie
The chromatin scaffolding protein SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) was previously shown to have diverse roles in X-chromosome inactivation, imprinting and double-strand break repair, and mutations in SMCHD1 contribute to a type of muscular dystrophy. Now, development of the nose and eyes is added to its list of functions.

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Feb
2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I Jones, Serkan Erdin, Kathleen A Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin Samocha, Benjamin B Currall, Donncha S Dunican, Ryan L Collins, Jason R Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K Rainger, Shelagh Joss, Jill Clayton Smith, Margaret F Lippincott, Sylvia S Singh, Nirav Patel, Jenny W Jing, Jennifer R Law, Nalton Ferraro, Alain Verloes, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina Jacobsen, Jeanie Tryggestad, Steven Chernausek, Lisa A Schimmenti, Benjamin Brasseur, Claudia Cesaretti, Jose E García-Ortiz, Tatiana Pineda Buitrago, Orlando Perez Silva, Jodi D Hoffman, Wolfgang Mühlbauer, Klaus W Ruprecht, Bart L Loeys, Masato Shino, Angela M Kaindl, Chie-Hee Cho, Cynthia C Morton, Richard R Meehan, Veronica van Heyningen, Eric C Liao, Ravikumar Balasubramanian, Janet E Hall, Stephanie B Seminara, Daniel Macarthur, Steven A Moore, Koh-Ichiro Yoshiura, James F Gusella, Joseph A Marsh, John M Graham, Angela E Lin, Nicholas Katsanis, Peter L Jones, William F Crowley, Erica E Davis, David R FitzPatrick, Michael E Talkowski
Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a constrained region of SMCHD1 encompassing the ATPase domain. SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.

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Dec
2017

Coronal clival cleft in CHARGE syndrome.

Neuroradiol J 2017 Dec 6;30(6):574-577. Epub 2017 Jan 6.
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities.

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Mar
2017

Congenital choanal atresia (CCA) is a very rare abnormality of the nose, but in the case of bilateral presence, it becomes a life-threatening malformation. Various surgical treatment options, such as transpalatal, transseptal, and open rhinoplasty techniques, as well as the transnasal approach, have been defined for the repair of CCA. In this study, the authors intended to evaluate the outcomes of transnasal endoscopic surgery for CCA, and stent implementation's impact on surgical success.

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Dec
1969

The buccopharyngeal membrane is a thin layer of cells covering the embryonic mouth. The perforation of this structure creates an opening connecting the external and the digestive tube which is essential for oral cavity formation. In humans, persistence of the buccopharyngeal membrane can lead to orofacial defects such as choanal atresia, oral synechiaes, and cleft palate.

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Nov
2016

In this study, the anaesthetic management of newborn and infant patients who underwent surgery for choanal atresia between 2009 and 2016 is discussed in the light of recently published literature.
The diagnoses, demographic data, anaesthetic risk and duration, additional anomalies, airway management, and complications that arose in 41 patients with choanal atresia who were operated on between 2009 and 2016 were evaluated retrospectively by examining their medical and anaesthesia records.
The patients were divided into 2 groups: Group I-bilateral choanal atresia and Group II-unilateral choanal atresia.

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Jan
2017

Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia.

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Nov
2016

Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of, the regulation of which has been associated with PRS phenotypes.

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Jan
2017

To describe the application of mometasone furoate eluting sinus stent technology in the treatment of choanal atresia (CA) in the hopes of preventing postsurgical stenosis.
We analyzed 3 consecutive patients aged 4 days to 16 years undergoing repair of CA at a tertiary pediatric hospital. Mometasone furoate eluting sinus stents were placed intraoperatively.

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Jun
2017

Umbilical cord hernia is poorly understood and often miscategorized as "omphalocele minor". Careless clamping of the cord leads to iatrogenic gut injury in the situation of umbilical cord hernia. This study aimed to determine the characteristics and outcomes of umbilical cord hernias.

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Feb
2017

CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome.

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Jan
2016

Bilateral congenital choanal atresia that presents in adulthood is rare. There are only eight reported cases in the literature.
We present a ninth case of adult bilateral choanal atresia diagnosed at the age of 20 years.

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Jul
2016

Whilst rhabdomyosarcoma (RMS) is the third most common solid tumour in children, congenital RMS of the tongue is extremely rare and usually present as painless progressive mass since birth (Dagher and Helman in Oncologist 4:34-44, 1999; Childs and Goudy in Int J Pediatr Otorhinolaryngol 5:126-128, 2010). In neonates, presentation with respiratory distress is unexpected as neonates are preferential nasal breathers and restricted oral breathing due to tumour usually poses no problem. We herein report a case of rhabdomyosarcoma of the tongue with co-existent unilateral choanal atresia, presenting with respiratory distress.

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