Anaesthesia Concerns in Apert Syndrome - A Case Report

Four patients are described with localized areas of stony-hard skin, mild hirsutism, and limitation of joint mobility. In three of these individuals the disorder was congenital and, in the fourth, it was first noticed in early childhood. No other abnormalities have been observed on repeated physical examination. Biopsies of affected skin show abnormal amounts of hyaluronidase-digestible acid mucopolysaccharide in the dermis. Fibroblast cultures from one individual demonstrated marked increase in intracellular metachromatic material. None of the patients had increased excretion of mucopolysaccharide in the urine. The occurrence of this disorder in a mother and two children suggests an autosomal dominant mode of inheritance. It is postulated that these patients manifest a connective tissue disorder possibly resulting from an abnormality of mucopolysaccharide metabolism.

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Spondylocostal Dysplasia and Brachydactyly: a case report

10.22541/au.163845862.23600241/v1 ◽

2021 ◽

Author(s):

Surasak Puvabanditsin ◽

Michelle Gorbonosov ◽

Kristin Blackledge ◽

Jeffrey Manzano ◽

Matthew Federici ◽

...

Keyword(s):

Case Report ◽

Skeletal Dysplasia ◽

Congenital Anomalies ◽

Autosomal Dominant ◽

Multiple Congenital Anomalies ◽

Genetic Studies ◽

Radiologic Findings ◽

First Case ◽

Spondylocostal Dysostosis ◽

Male Neonate

We report a preterm male neonate presenting with a skeletal dysplasia associated with multiple congenital anomalies. Radiologic findings and genetic studies are consistent with spondylocostal dysostosis (SCD) and autosomal dominant brachydactyly. This is the first case report of spondylocostal dysostosis and brachydactyly associated with TBX6 and IHH variants.

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Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn

PRILOZI ◽

10.2478/prilozi-2018-0016 ◽

2017 ◽

Vol 38 (3) ◽

pp. 153-155

Author(s):

Orhideja Stomnaroska ◽

Dragan Danilovski ◽

Sanja Ivanovska

Keyword(s):

Autosomal Dominant ◽

Ultrasound Examination ◽

Distal Phalanx ◽

Apert Syndrome ◽

Complete Fusion ◽

Coronal Suture ◽

Airway Compromise ◽

Midfacial Hypoplasia ◽

Hearing Difficulties

AbstractWe report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal.Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.

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Anesthetic Management of Apert Syndrome: A Case Report

Journal of Institute of Medicine ◽

10.3126/jiom.v43i1.37473 ◽

2021 ◽

Vol 43 (1) ◽

pp. 50-53

Author(s):

Megha Koirala ◽

Gentle S Shrestha ◽

Pankaj Joshi ◽

Bashu D Parajuli

Keyword(s):

Case Report ◽

Autosomal Dominant ◽

Anesthetic Management ◽

Apert Syndrome ◽

Mask Ventilation ◽

Different Types ◽

Dominant Disease ◽

Special Challenge ◽

Bag Mask Ventilation ◽

Rare Autosomal Dominant Disease

Apert syndrome is a rare autosomal dominant disease associated with abnormalities of skull, face and limbs. These patients present for different types of surgeries. To the anesthesiologists,they pose special challenge during airway management, manifesting as difficulty in bag-mask ventilation and increased incidence of airway obstruction. Here, we report a case of a child with Apert syndrome undergoing syndactyly release under general anesthesia, in whom severe bronchospasm and a failed bag-mask ventilation occurred during the emergence of anesthesia requiring re-insertion of laryngeal mask airway.

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Spectrophotometric Determination of Zolmitriptan in Pure Form and in Tablets Through Charge Transfer Complex Reaction

Journal of Biomedical and Allied Research ◽

10.37191/mapsci-2582-4937-1(1)-006 ◽

2019 ◽

Author(s):

Safwan Ashour

Keyword(s):

Charge Transfer ◽

Limit Of Detection ◽

Pharmaceutical Preparations ◽

Dominant Mode ◽

Pure Form ◽

Apert Syndrome ◽

Charge Transfer Complexes ◽

Midfacial Hypoplasia ◽

Limit Of Quantitation

Apert syndrome (AS) a type of acrocephalosyndactyly is a rare congenital disorder with autosomal dominant mode of transmission that consists of craniofacial synostosis, midfacial hypoplasia and bilateral limb syndactyly. Patients present in early childhood for multiple surgeries which make it imperative to know about various anaesthetic implications like difficult airway ventilation, airway hyper reactivity, associated congenital anomalies, increased airway secretions and deranged temperature thermoregulation associated with this syndrome. The patient should be thoroughly evaluated preoperatively and managed accordingly. We discuss the successful management of a three and a half years old male child two simple, rapid and selective colorimetric methods were developed for the determination of zolmitriptan (ZMT) in pure form and pharmaceutical preparations. These methods are based on the directly formation of charge-transfer complexes between ZMT and m-nitrophenol (MNP) in aqueous medium (ZMT: MNP, 1:1) and 2,4-dinitrophenol (DNP) in ethanol:water (80:20). The developed method involves formation of coloured complexes (1:1) of ZMT with MNP and DNP. The yellow formed complexes were quantitatively measured at 400 and 440 nm for ZMT-MNP and ZMT-DNP, respectively. Beer's law was obeyed in the concentration ranges of 3.0–260 μg/mL for MNP and 3.5–120 μg/mL for DNP. Limit of detection and limit of quantitation for MNP were calculated as 0.58 and 1.75 μg/mL, respectively, and for DNP were 0.32 and 0.97 μg/mL, respectively. The method was validated with respect to accuracy, robustness and selectivity. The proposed method has been successfully applied for the determination of ZMT in tablets.

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Porokeratosis of Mibelli - literature review and a case report

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20132721 ◽

2013 ◽

Vol 88 (6 suppl 1) ◽

pp. 179-182 ◽

Cited By ~ 10

Author(s):

Flávia Regina Ferreira ◽

Leopoldo Duailibe Nogueira Santos ◽

Fernando Augusto Nogueira Mendes Tagliarini ◽

Marcia Lanzoni de Alvarenga Lira

Keyword(s):

Early Childhood ◽

Case Report ◽

Literature Review ◽

Female Patient ◽

Autosomal Dominant ◽

Heterogeneous Group ◽

Dominant Form ◽

Autosomal Dominant Form

Porokeratosis is a disorder of epidermal keratinization characterized by annular plaques with an atrophic center and hyperkeratotic edges, and includes a heterogeneous group of disorders that are mostly inherited in an autosomal dominant form. This report describes a 5 year-old female patient, with porokeratosis of Mibelli confirmed histopathologically. The rarity of this disorder, its clinical exuberance and the destructive character of the lesions, as well as the facial and mucosal involvements, unusual in this form of porokeratosis, and also its onset in early childhood motivated this report.

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Successful management of extensive root caries with gingival recession using a multidisciplinary team approach- A case report of a 1-year follow-up

International Journal of Medical and Dental Case Reports ◽

10.15713/ins.ijmdcr.98 ◽

2018 ◽

Vol 5 (1) ◽

pp. 1-4

Author(s):

Vrushali Abhyankar ◽

Paul S. Bland ◽

Jordan Hansen

Keyword(s):

Case Report ◽

Multidisciplinary Team ◽

Gingival Recession ◽

Team Approach ◽

Root Caries ◽

Successful Management ◽

Multidisciplinary Team Approach

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Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

American Journal of Sonography ◽

10.25259/ajs-1-2019 ◽

2019 ◽

Vol 2 ◽

pp. 5

Author(s):

Kevin Kapcio ◽

Kamila Skalski ◽

Vikram Dogra

Keyword(s):

Salivary Gland ◽

Case Report ◽

Renal Cell ◽

Autosomal Dominant ◽

Colonic Polyps ◽

Sonographic Evaluation ◽

Parathyroid Adenomas ◽

Pulmonary Cysts ◽

Renal Screening ◽

Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

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