scholarly journals An Infant with Apert Syndrome and Tetralogy of Fallot for Craniosynostosis Correction: Anesthetic Challenges

2019 ◽  
Author(s):  
Karen R. Lionel ◽  
Satish K. Sundararajan ◽  
Ranjith K. Moorthy ◽  
Ramamani Mariappan
Keyword(s):  
Tetralogy Of Fallot ◽  
Autosomal Dominant ◽  
Air Embolism ◽  
Massive Bleeding ◽  
Apert Syndrome ◽  
Craniofacial Anomalies ◽  
Autosomal Dominant Disorder ◽  
Venous Air Embolism ◽  
Congenital Cardiac Anomalies ◽  
Hands And Feet

AbstractApert syndrome (AS) is an autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of hands and feet. Ten percent children with AS can have associated congenital cardiac anomalies. Association of complex cyanotic heart disease with craniosynostosis is very rare. So far, only one case has been reported in the literature. The craniosynostosis corrective surgery is associated with the risk of massive bleeding or venous air embolism, which can cause paradoxical air embolism and precipitate cyanotic spell, which makes the anesthesia more challenging. In this report, we present the anesthetic challenges of an 8-month-old infant with AS and tetralogy of Fallot for craniosynostosis correction.

scholarly journals Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation

2021 ◽  
Author(s):  
Chandra Bhan Singh ◽  
Biswajit Mishra ◽  
Rashmi Patel ◽  
Ashok Kumar ◽  
Akhtar Ali
Keyword(s):  
Autosomal Dominant ◽  
Growth Factor Receptor ◽  
Sporadic Case ◽  
Apert Syndrome ◽  
Nasal Bridge ◽  
Craniofacial Dysmorphism ◽  
Fgfr2 Gene ◽  
Craniofacial Features ◽  
Ocular Hypertelorism ◽  
Hands And Feet

AbstractApert syndrome is a rare acrocephalosyndactyly (craniosynostosis) syndrome characterized by craniofacial dysmorphism and syndactyly of the hands and feet. It is caused by FGFR2 mutations and inherited in an autosomal dominant manner. This article describes a novel clinical variant of Apert syndrome having bilateral symmetrical tripod-shaped syndactyly in hands with milder craniofacial features in a sporadic case, along with a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The patient had shown craniosynostosis, dysmorphic face, ocular hypertelorism, marked depression of the nasal bridge, long philtrum, and low set ears. Direct resequencing of the FGFR2 gene through Sanger’s method identified a heterozygous missense mutation; FGFR2c.758C>G (FGFR2p.P253R) in the exon-7 of the gene.

Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings

2006 ◽  
Vol 30 (1) ◽  
pp. 83-88 ◽  
Author(s):  
Dr. Ashok Kumar Jena ◽  
Dr.Om Kharbanda
Keyword(s):  
Anterior Chamber ◽  
Autosomal Dominant ◽  
Craniofacial Anomalies ◽  
Autosomal Dominant Disorder ◽  
Anterior Crowding ◽  
Rieger Syndrome ◽  
Dental Abnormalities ◽  
Syndrome Report

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior openbite and moderate to severe anterior crowding.

Prenatal diagnosis of Apert syndrome

2018 ◽  
Author(s):  
N.P. Veropotvelyan , D.I. Laylo , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Other ◽  
Lower Limbs ◽  
Apert Syndrome ◽  
Type I ◽  
Autosomal Dominant Disorder ◽  
Nasal Bridge ◽  
Skull Shape

Apert syndrome is a rare monogenic autosomal dominant disorder characterized by severe craniosynostosis, hypoplastic mediofacial structures and symmetric syndactyly of the upper and lower limbs. De novo case with Apert synclrome fetus was detected prenatally at 19–20 weeks of gestation when echography showed next pathognomic signs: an abnormal skull shape, frontal bossing, mild pachygyria, severe hypertelorism bilateral exophthalmos, deep nasal bridge, short upturned nose, prognathia, long filtrum, mild microgenia and ful syndactyly of the feet and hands. Differential diagnosis with other acrocephalosyndactyly types was performed. It is considered, that this is the earliest term of this syndrom prenatal diagnosis in a low risk pregnancies with unimpaired family history. By the parents desire this pregnancy was terminated and subsequent autopsy confirmed the diagnosis of Apert syndrome (acrocephalosyndactyly — type I) one of the hands looks like mitten the other one has the bucket shape.

Craniosynostosis and Apert Syndrome

2018 ◽  
Author(s):  
Petra M. Meier ◽  
Thomas O. Erb
Keyword(s):  
Point Of Care ◽  
Multidisciplinary Treatment ◽  
Sleep Apnea Syndrome ◽  
Maxillofacial Surgery ◽  
Surgical Techniques ◽  
Growth Factor Receptor ◽  
Air Embolism ◽  
Apert Syndrome ◽  
Venous Air Embolism ◽  
Obstructive Sleep

Apert syndrome is a complex, progressive multisystem condition of the craniosynostosis spectrum originating from a fibroblast growth factor receptor disorder. Multidisciplinary treatment teams may include craniofacial surgery, neurosurgery, otolaryngology, ophthalmology, oro-maxillofacial surgery, and pediatric intensive care. Secondary to midface hypoplasia, children often present with a compromised airway and have a high incidence of sleep disorders. Anesthetic considerations include difficult airway assessment, the presence of obstructive sleep apnea syndrome, and increased intracranial pressure. Extensive remodeling procedures can be associated with massive hemorrhage (e.g., venous sinus bleeding) and venous air embolism. Transfusion-related complications include coagulopathy, metabolic derangements, and primarily noninfectious hazards such as transfusion-related acute lung injury and transfusion-related immunomodulation. Multimodal blood management should focus on a combination of appropriate surgical techniques and blood conservation, along with guidance from point-of-care testing (including coagulation).

scholarly journals Alternative Methods for Nasotracheal Intubation and Extubation in a Patient With Apert Syndrome

2015 ◽  
Vol 62 (3) ◽  
pp. 122-124 ◽  
Author(s):  
Masanori Tsukamoto ◽  
Takeshi Yokoyama
Keyword(s):  
Autosomal Dominant ◽  
Anesthetic Management ◽  
Nasotracheal Intubation ◽  
Alternative Methods ◽  
Apert Syndrome ◽  
Autosomal Dominant Disorder ◽  
Cleft Palate Repair ◽  
Palate Repair ◽  
Facial Anatomy ◽  
Airway Exchange

Abstract Apert syndrome is a rare autosomal dominant disorder characterized by craniofacial abnormalities, craniosynostosis and syndactyly. Nasotracheal intubation for a patient with Apert syndrome can be a challenge because of abnormal facial anatomy. We experienced the anesthetic management of a patient with Apert syndrome who underwent partial resection of mandible and cleft palate repair with nasotracheal intubation. Nasotracheal intubation using a gastric tube and extubation using an airway exchange catheter proved useful in this case of airway compromise.

Surgical Correction of the Craniofacial Anomalies in Apert Syndrome

1991 ◽  
Vol 18 (2) ◽  
pp. 277-289 ◽  
Author(s):  
John B. Mulliken ◽  
Richard J. Bruneteau
Keyword(s):  
Surgical Correction ◽  
Apert Syndrome ◽  
Craniofacial Anomalies

Inspired Gas Composition Influences Recovery from Experimental Venous Air Embolism

1991 ◽  
Author(s):  
Joseph A. Bettencourt ◽  
Charles M. Harrison ◽  
Theodore Plemons ◽  
Patricia L. Schleiff ◽  
William J. Mehm
Keyword(s):  
Air Embolism ◽  
Gas Composition ◽  
Venous Air Embolism

Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism

2020 ◽  
Vol 33 (7) ◽  
pp. 963-966
Author(s):  
Haruka Kawamura ◽  
Satoshi Watanabe ◽  
Takashi I ◽  
Izumi Asahina ◽  
Hiroyuki Moriuchi ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Potential ◽  
Giant Cells ◽  
Efficacy And Safety ◽  
Autosomal Dominant Disorder ◽  
Osteolytic Lesions ◽  
Case Presentation ◽  
Childhood Growth ◽  
Receptor Activator ◽  
Denosumab Treatment

AbstractBackgroundDenosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand, which strongly suppresses osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the jaws, in which the bone is replaced by a fibrous granuloma containing osteoclast-like giant cells.Case presentationWe report the efficacy and safety of denosumab treatment in a prepubertal boy with progressive cherubism. The treatment consisting of eight subcutaneous denosumab injections (120 mg/dose) in 6 months not only suppressed the expansion of the osteolytic lesions but also dramatically ossified them. However, a transiently decreased growth rate and rebounded asymptomatic hypercalcemia were associated with the treatment.ConclusionsThe present case demonstrated the therapeutic potential of denosumab for treatment of cherubism, although adverse effects, especially those on childhood growth, remain obscure. Further studies are needed to establish a safe and effective protocol for denosumab treatment of children.

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