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Genes Sep 2021Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of... (Review)
Review
Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development. Features of TCS include microtia with conductive hearing loss, slanting palpebral fissures with possibly coloboma of the lateral part of lower eyelids, midface hypoplasia, micrognathia as well as sporadically cleft palate and choanal atresia or stenosis. TCS occurs in the general population at a frequency of 1 in 50,000 live births. Four subtypes of Treacher Collins syndrome exist. TCS can be caused by pathogenic variants in the , , and genes. Genetically, the gene contains 27 exons which encodes the Treacle protein. In , over 200 pathogenic variants have been identified, of which most are deletions leading to a frame-shift, that result in the formation of a termination codon. In the presented article, we review the genetics and phenotype of TCS as well as the management and surgical procedures utilized for treatment.
Topics: Choanal Atresia; DNA-Directed RNA Polymerases; Humans; Mandibulofacial Dysostosis; Nuclear Proteins; Phosphoproteins; Syndrome
PubMed: 34573374
DOI: 10.3390/genes12091392 -
The American Journal of Case Reports Sep 2021BACKGROUND Treacher Collins syndrome is a rare autosomal dominant disorder characterized by micrognathia and abnormal development of the zygomatic arch, which may result...
BACKGROUND Treacher Collins syndrome is a rare autosomal dominant disorder characterized by micrognathia and abnormal development of the zygomatic arch, which may result in significant upper airway obstruction. As patients who have it age, their upper airway obstruction may worsen. Therefore, they typically require several surgeries throughout their lives to correct specific facial abnormalities. Anesthetic and airway management of patients with Treacher Collins syndrome can be challenging for anesthesia providers, especially in ambulatory settings. CASE REPORT A 15-year-old patient with Treacher Collins syndrome presented to our outpatient surgery center for midface fat grafting. He had undergone multiple surgical procedures at Nationwide Children's Hospital, which is affiliated with The Ohio State University Wexner Medical Center. A decision was made to proceed with the grafting surgery after: (1) the literature was thoroughly reviewed; (2) multidisciplinary planning had been done utilizing our comprehensive preoperative screening and assessment process; (3) the scope of care at our ambulatory surgery center, the patient's medical history, and relevant airway notes had been reviewed; (4) the case was discussed with the surgeon; and (5) relevant images of the patient had been gathered. Evaluation of the patient's airway on the day of surgery was reassuring and a plan for managing a potentially difficult airway had been developed. After anesthetic induction, mask ventilation without adjuvants was successful. Video and direct laryngoscopy (for purposes of education) revealed grade 1 views. Supraglottic airway device placement resulted in an effective seal and the remainder of the surgery and the patient's subsequent course were uneventful. CONCLUSIONS Improved airway approaches, combined with thorough preoperative screening and multidisciplinary planning and communication, may make it possible to perform ambulatory surgery on patients with Treacher Collins syndrome, whose condition typically represents a significant challenge to anesthesia providers.
Topics: Adolescent; Anesthetics; Child; Face; Humans; Laryngoscopy; Male; Mandibulofacial Dysostosis; Outpatients
PubMed: 34480792
DOI: 10.12659/AJCR.931974 -
The Pan African Medical Journal 2021The MSX homeobox genes cause Goldenhar syndrome (GHS) or facio-auriculo-vertebral dysplasia, a rare developmental defect. Its exact etiology is still unknown. Its...
The MSX homeobox genes cause Goldenhar syndrome (GHS) or facio-auriculo-vertebral dysplasia, a rare developmental defect. Its exact etiology is still unknown. Its incidence lies between 1: 3500 and 1: 5600. In 85% of the cases, the unilateral face is affected. Typical clinical findings in a classic GHS include eye disorders, ear irregularities (with or without hearing loss), facial impairments, dental and oral ailments, cardiac syndromes, central nervous system (CNS) involvement, trachea and lung malformations, kidney and gastrointestinal defects, and skeletal alterations. This case report presents a follow-up case of Goldenhar Syndrome in a 12-year-old female, with no relevant family history, diagnosed with anotia on the left side, cyanosis, and facial asymmetry at birth. She presented with moderate growth failure, bilateral sclerosing mastoiditis and kyphoscoliosis. She underwent posterior scoliosis correction posterior instrumented fusion from D1 to D11.
Topics: Abnormalities, Multiple; Child; Female; Follow-Up Studies; Goldenhar Syndrome; Growth Disorders; Humans; Kyphosis; Mastoiditis; Scoliosis; Spinal Fusion
PubMed: 34466198
DOI: 10.11604/pamj.2021.39.96.27259 -
Boletin Medico Del Hospital Infantil de... 2021El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis...
INTRODUCCIÓN
El síndrome de Goldenhar es un trastorno heterogéneo, esporádico en su mayoría o por patrón de herencia autosómico dominante o recesivo, de la morfogénesis craneofacial asociada al primero y segundo arcos faríngeos, y forma parte del espectro oculoauriculovertebral. La incidencia es de 1 por cada 3500-45,000 recién nacidos vivos, con una razón de sexo masculino/femenino de 3:2.
CASO CLÍNICO
Se presenta el caso de un recién nacido con fenotipo de síndrome oculoauriculovertebral. Se abordó con radiografía de tórax, ecografía abdominal y tamizaje metabólico y auditivo, que reportaron hemivértebra torácica, fusión costal, quiste renal e hipoacusia bilateral profunda, respectivamente. Fue alimentado con lactancia mixta desde el nacimiento, sin lograr una succión adecuada y con pérdida de peso. A los 3 meses de edad recibió terapia de rehabilitación oral con electroestimulación en conjunto de 10 sesiones con 10 mA de intensidad, al igual que a los 23, 24, 25, 27, 30 y 32 meses de edad. A los 4 meses, espesamiento de fórmula con cereal; a los 7 meses, sonda de gastrostomía; a los 20 meses, cirugía de paladar y macrostomía. Mostró mejoría en intensidad de babeo en las primeras 10 sesiones y mejoría en la deglución a las 30 sesiones. A los 3 años de edad consume el 100% de los alimentos por vía oral.
CONCLUSIONES
Con la escasa evidencia científica que este caso aislado aporta, el tratamiento con la terapia de rehabilitación en conjunto con la terapia convencional y la corrección anatómica dio resultados positivos para el trastorno de la deglución.
BACKGROUND
Goldenhar syndrome is a heterogeneous disorder, mostly sporadic or due to a dominant autosomal or recessive pattern of inheritance, that exhibits craniofacial morphogenesis associated with the first and second pharyngeal arches and is part of the oculoauriculovertebral spectrum. Its incidence is of 1 in 3,500-45,000 live newborns, with a male to female ratio of 3:2.
CASE REPORT
We describe the case of a male newborn with oculoauriculovertebral syndrome phenotype. It was approached with chest X-ray, abdominal ultrasound, metabolic and hearing screening, which reported thoracic hemivertebra, costal fusion, renal cyst, and profound bilateral hypoacusis, respectively. Although the newborn was fed with mixed lactation from birth, adequate suction and with weight loss were not achieved. At 3 months of age, as well as at 23, 24, 25, 27, 30 and 32 months of age, the infant received oral rehabilitation therapy with electrostimulation in a set of 10 sessions with 10 mA intensity. At 4 months, thickening of formula with cereal; at 7 months, gastrostomy tube; at 20 months, palate surgery and macrostomy. Improvement in drooling intensity was observed during the first 10 sessions, and improvement in swallowing after 30 sessions. At 3 years of age, the patient consumes 100% of food orally.
CONCLUSIONS
According to limited scientific evidence that this isolated case provides, rehabilitation therapy together with conventional therapy coupled with anatomical correction gave positive results for swallowing disorder.
Topics: Child, Preschool; Deglutition Disorders; Electric Stimulation Therapy; Failure to Thrive; Female; Goldenhar Syndrome; Humans; Infant; Infant, Newborn; Male; Weight Loss
PubMed: 34351893
DOI: 10.24875/BMHIM.20000222 -
Nature Communications Aug 2021Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing...
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.
Topics: Adolescent; Adult; Animals; Child; Exome; Female; Genetic Association Studies; Goldenhar Syndrome; Haploinsufficiency; Humans; Infant; Male; Mutation; Neural Crest; Pedigree; RNA Splicing Factors; Spliceosomes; Xenopus laevis
PubMed: 34344887
DOI: 10.1038/s41467-021-24852-9 -
European Journal of Medical Research Jul 2021Current research about hemifacial microsomia (HFM) patients after distraction osteogenesis (DO) most emphasize the morphologic changes. This case report shows the...
BACKGROUND
Current research about hemifacial microsomia (HFM) patients after distraction osteogenesis (DO) most emphasize the morphologic changes. This case report shows the outcome of DO on the upper airway of a HFM patient with obstructive sleep apnea (OSA) based on the use of computational fluid dynamics (CFD).
CASE PRESENTATION
An 11-year-old boy was diagnosed as HFM with OSA, and underwent unilateral DO. Polysomnography and CT scans were performed before and 6 months after treatment. After DO, lowest blood oxygen saturation increased from 81% to 95% and apnea and hypopnea index decreased from 6.4 events/hour to 1.2 events/hour. The oropharynx and nasopharynx were obviously expanded. We observed apparently increased average pressure, decreased average velocity and pressure drop in all cross-sections, and largely decreased airflow resistance and maximum velocity entirely in the airway.
CONCLUSIONS
The results suggest that DO might be effective for the treatment of OSA by expanding the upper airway and reducing the resistance of inspiration.
Topics: Child; Goldenhar Syndrome; Humans; Hydrodynamics; Male; Osteogenesis, Distraction; Oxygen Saturation; Prognosis; Sleep Apnea, Obstructive
PubMed: 34256849
DOI: 10.1186/s40001-021-00547-1 -
Stem Cell Research Aug 2021Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells...
Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c.1966_1969dup (p.Ser657Trpfs*25) were reprogrammed into induced pluripotent stem cells (iPSCs) named PSHi002-A through episomal plasmids encoding hOCT4, hSOX2, hNANOG, hLIN28, hKLF4, and hL-MYC. The established iPSC line expressed pluripotent markers, had a normal karyotype (46, XY), and can be differentiated into the three germ layers in vivo.
Topics: Adult; Cell Differentiation; Humans; Induced Pluripotent Stem Cells; Leukocytes, Mononuclear; Male; Mandibulofacial Dysostosis; Mutation; Nuclear Proteins; Phosphoproteins
PubMed: 34247110
DOI: 10.1016/j.scr.2021.102437 -
European Journal of Medical Genetics Sep 2021In this report, we describe an unusual case of progressive hemifacial atrophy or Parry-Romberg syndrome in a 10-year-old girl with progressive hemifacial microsomia and... (Review)
Review
A unique case of progressive hemifacial microsomia or Parry-Romberg syndrome associated with limb and brain anomalies with normal neurological findings: A review of the literature.
In this report, we describe an unusual case of progressive hemifacial atrophy or Parry-Romberg syndrome in a 10-year-old girl with progressive hemifacial microsomia and limb anomalies who had brain magnetic resonance imaging (MRI) findings of white matter hyper-intensities. Patients typically present with neurological manifestations such as epilepsy, facial pain, and migraines and ophthalmological symptoms in conjunction with white matter lesions. The patient demonstrated normal cognition and psychomotor development despite the presence of white matter lesions in her frontal lobe that is commonly associated with neurological symptoms. This report brings attention to the complicated relationship between facial, limb and brain imaging findings in Parry-Romberg syndrome and differentiates it from hemifacial microsomia syndrome.
Topics: Brain; Child; Facial Hemiatrophy; Female; Goldenhar Syndrome; Humans; Limb Deformities, Congenital; Phenotype
PubMed: 34082156
DOI: 10.1016/j.ejmg.2021.104234 -
Revista Paulista de Pediatria : Orgao... 2021To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most...
OBJECTIVE
To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications.
CASE DESCRIPTION
This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation.
COMMENTS
Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.
Topics: Abnormalities, Multiple; Cardiovascular Abnormalities; Goldenhar Syndrome; Humans; Infant; Male; Respiratory Distress Syndrome; Subclavian Artery; Tomography, X-Ray Computed
PubMed: 34076202
DOI: 10.1590/1984-0462/2022/40/2020153 -
BMJ Case Reports May 2021The management of patients with Treacher Collins Syndrome (TCS) is complex and involves many different specialists within multidisciplinary teams (MDT). The treatment...
The management of patients with Treacher Collins Syndrome (TCS) is complex and involves many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients, MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of TCS, the management of these patients and provides a unique perspective from one of the coauthors who has TCS and reports on his treatment experiences and long-term treatment outcomes. By having a better understanding of the impact of TCS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies in particular an increased awareness of the psychosocial challenges they endure.
Topics: Adult; Craniofacial Abnormalities; Humans; Mandibulofacial Dysostosis; Treatment Outcome
PubMed: 34045198
DOI: 10.1136/bcr-2020-241351