Anesthetic Management of a Patient With Ring 18 Syndrome

Ring 18 syndrome or ring chromosome 18 is an extremely rare genetic disorder involving the fusion of the 18th chromosomal ends to form a ring, often with genetic material loss of varying degrees. Although clinical presentation can be extremely variable, characteristic features usually include craniofacial malformations, delayed development, hypotonia, and other skeletal and congenital heart defects. We report the management of a 20-year-old male with ring chromosome 18 who underwent general anesthesia for dental treatment. Clinical manifestations for this patient included intellectual disability, short stature, hypertelorism, flat nasal bridge, micrognathia, a “carp-shaped” mouth, and aortic and pulmonary valve regurgitation. Although mask ventilation and oral intubation were easily performed, nasal intubation was difficult because of rhinostenosis. When providing general anesthesia for a patient with ring chromosome 18, anesthesiologists should evaluate the patient preoperatively for congenital heart defects and prepare for a potential difficult airway.

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Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

Proceedings ◽

10.3390/proceedings2019022053 ◽

2019 ◽

Vol 22 (1) ◽

pp. 53

Author(s):

Castilla-Vallmanya ◽

Urreizti ◽

Franco ◽

Amiel ◽

Tan ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Genetic Disorder ◽

Rare Genetic Disorder

Opitz C syndrome (OCS, MIM #211750) is an extremely rare genetic disorder characterized bymultiple malformations (e.g., trigonocephaly, congenital heart defects) and variable intellectual andpsychomotor delay. [...]

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Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

Cytogenetic and Genome Research ◽

10.1159/000445273 ◽

2016 ◽

Vol 148 (1) ◽

pp. 6-13

Author(s):

Kaihui Zhang ◽

Fengling Song ◽

Dongdong Zhang ◽

Yong Liu ◽

Haiyan Zhang ◽

...

Keyword(s):

Developmental Delay ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Ring Chromosome ◽

Deletion Syndrome ◽

Facial Features ◽

Whole Genome Microarray ◽

Available Information ◽

3P Deletion Syndrome

Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.

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Congenital Anomalies of the Kidney and Urinary Tract in Children with Congenital Heart Defects

Kidney & Blood Pressure Research ◽

10.1159/000504224 ◽

2020 ◽

Vol 45 (2) ◽

pp. 307-313

Author(s):

Dapeng Jiang ◽

Qi Wang ◽

Zhengzhou Shi ◽

Jie Sun

Keyword(s):

Urinary Tract ◽

Congenital Heart Defects ◽

Congenital Anomalies ◽

Congenital Heart ◽

Medical Center ◽

Heart Defects ◽

Clinical Manifestations ◽

Number Of Patients ◽

Significant Difference ◽

History Of

Background/Aims: To investigate the incidence and clinical characteristics of congenital anomalies of the kidney and urinary tract (CAKUT) in children with congenital heart defects (CHD). Methods: We retrospectively analyzed the clinical data of children with CHD with CAKUT admitted to the Shanghai Children’s Medical Center affiliated with the Shanghai Jiao Tong University School of Medicine between September 2018 and March 2019. Patients underwent routine examinations for liver, kidney, and coagulation function, and urinary tract ultrasonography, and we summarized patients’ clinical manifestations and imaging abnormalities. Results: A total of 1,410 children with CHD were diagnosed and treated in our hospital. The total number of patients with abnormal urogenital systems was 104, and hydronephrosis was the most common abnormality, followed by vesicoureteral reflux and duplication of the kidney and ureter. The overall prevalence of CAKUT was 7.4%. There was no statistically significant difference for maternal age, sex, parity, gestational age, and history of medication during pregnancy between the patients with CAKUT and those without CAKUT. Conclusion: The incidence of CAKUT in our patients with CHD was significantly higher than that in the general population. We recommend urinary ultrasonography as a routine examination for children with CHD for early detection of CAKUT, to avoid missed diagnoses, and to initiate appropriate treatment.

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Williams-Beuren Syndrome:A Rare Case from Western India

Journal of Health Science Research ◽

10.18311/jhsr/2016/v1/i1/839 ◽

2016 ◽

Vol 1 (1) ◽

pp. 1

Author(s):

Pankaj K. Gadhia ◽

Salil N. Vaniawala

Keyword(s):

Williams Syndrome ◽

Congenital Heart Defects ◽

Rare Case ◽

Congenital Heart ◽

Clinical Presentation ◽

Heart Defects ◽

Genetic Disorder ◽

Western India ◽

Renal Anomalies ◽

Live Births

Williams-Beuren Syndrome (WBS) also known as Williams Syndrome (WS) is a rare multisystem genetic disorder having incidence of 1 in 20,000 to 50,000 live births. WS caused by deletion of 26 - 28 contiguous genes including elastin (ELN) on chromosome 7q11.23. It is characterized by congenital heart defects, skeletal and renal anomalies. We report herein two rare cases of WS (One male and one female) from Western India varying clinical presentation. The confirmation was carried out by cytogenetic analysis and FISH test.

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Medical considerations in the dental treatment of patients with Williams-Beuren syndrome - report of four clinical cases

Clinical and Laboratorial Research in Dentistry ◽

10.11606/issn.2357-8041.clrd.2015.118463 ◽

2015 ◽

Vol 21 (2) ◽

pp. 110

Author(s):

Natália Silva Andrade ◽

Cíntia Santos ◽

Talita Castro ◽

Marina Gallottini

Keyword(s):

Mental Retardation ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Dental Treatment ◽

Heart Defects ◽

Genetic Disorder ◽

Behavioral Changes ◽

Dental Management ◽

School Of Dentistry ◽

Syndrome Report

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by peculiar facies, eyes, dental, cardiovascular, renal, and skeletal abnormalities, mental retardation, friendly and loquacious personality, and occasionally hypercalcemia in infancy. The orofacial aspects and especially the dental management of these patients have received little attention in the literature. The aim of this manuscript is to describe four cases of patients with WBS attended at Special Care Dentistry Center, School of Dentistry, University of São Paulo, with emphasis on the oral findings and systemic conditions of dental interest. The clinical management of patients with WBS is discussed. We conclude that congenital heart defects and behavioral changes are the aspects that most interfere on dental treatment

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A Rare Mutation In Noonan Syndrome

Neonatology & Clinical Pediatrics ◽

10.24966/ncp-878x/100060 ◽

2020 ◽

Vol 7 (3) ◽

pp. 1-4

Author(s):

Vasco Carvalho ◽

Keyword(s):

Short Stature ◽

Congenital Heart Defects ◽

Noonan Syndrome ◽

Congenital Heart ◽

Heart Defects ◽

Genetic Disorder ◽

Facial Features ◽

Rare Mutation ◽

Live Births ◽

Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

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Noonan Syndrome

Cognitive and Behavioral Abnormalities of Pediatric Diseases ◽

10.1093/oso/9780195342680.003.0026 ◽

2010 ◽

Author(s):

Ellen Wingbermüuhle ◽

Ineke van der Burgt

Keyword(s):

Congenital Heart Defects ◽

Noonan Syndrome ◽

Congenital Heart ◽

Mapk Pathway ◽

Heart Defects ◽

Genetic Disorder ◽

Tyrosine Phosphatase ◽

Older Age ◽

Diagnostic Process ◽

Age Related

Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994). In approximately 50% of the patients with definite NS, a missense mutation is found in the PTPN11 gene on chromosome 12. PTPN11 is one of the genes of the Ras-MAPK pathway, a signal transduction cascade that has been studied extensively for its role in human oncogenesis. The signaling cascade regulates cell proliferation, differentiation, and survival. PTPN11 encodes the nonreceptor protein tyrosine phosphatase SHP-2. The mutations associated with NS result in a gain of function of SHP-2 (Tartaglia and Gelb 2005). Recently, activating mutations in other genes of the Ras-MAPK pathway (SOS1, KRAS, RAF1) were found as the causative dominant mutations in NS. These findings establish hyperactive Ras as a cause of the developmental abnormalities seen in NS (Schubbert et al. 2007). The diagnosis is made on clinical grounds, by observation of key features. Establishing the diagnosis can be very difficult, especially at an older age. There is great variability in expression, and mild expression is likely to be overlooked. Improvement of the phenotype occurs with increasing age. The age-related change of facial appearance can be subtle, especially at older age. Several scoring systems have been devised to guide the diagnostic process). The most recent scoring system was developed in 1994 (Van der Burgt et al. 1994). The incidence of NS is estimated to be between 1:1,000 and 1:2,500 live births (Mendez and Opitz 1985). Further details on the various medical aspects of NS (e.g., congenital heart defects, skeletal and urethrogenital abnormalities, growth delay) can be found in Van der Burgt (2007). A number of conditions have phenotypes strikingly similar to NS. The first is Turner syndrome (45, X0), a well-known chromosomal abnormality in girls. A group of distinct syndromes with partially overlapping phenotypes also exist in which causative mutations are also found in genes of the RAS-MAPK pathway.

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