Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic seq...

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Main Authors: Lorna Hirst (Author), Gehan Abou-Ameira (Author), Mari-Liis Uudelepp (Author)
Format: Book
Published: Hindawi Limited, 2021-01-01T00:00:00Z.
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042 |a dc 
100 1 0 |a Lorna Hirst  |e author 
700 1 0 |a Gehan Abou-Ameira  |e author 
700 1 0 |a Mari-Liis Uudelepp  |e author 
245 0 0 |a Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma 
260 |b Hindawi Limited,   |c 2021-01-01T00:00:00Z. 
500 |a 2090-6803 
500 |a 2090-6811 
500 |a 10.1155/2021/6611548 
520 |a Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic sequelae of MSD are vast and multisystemic, primarily encompassing developmental delay and neurological, cardiopulmonary, dermatological, gastroenterological, and skeletal manifestations. The dental phenotype is scarcely described in the literature due to a paucity of cases. Dental treatment under local and general anaesthesia mandates an integrated multidisciplinary approach to safeguard systemic health and optimise outcomes. This paper presents two siblings with multiple sulfatase deficiency who presented to the Paediatric Dental Department at Great Ormond Street Hospital, requiring comprehensive care under general anaesthesia for dental caries and trauma. 
546 |a EN 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n Case Reports in Pediatrics, Vol 2021 (2021) 
787 0 |n http://dx.doi.org/10.1155/2021/6611548 
787 0 |n https://doaj.org/toc/2090-6803 
787 0 |n https://doaj.org/toc/2090-6811 
856 4 1 |u https://doaj.org/article/4ec2d73b4e824f2dad3005fb8e36f4bc  |z Connect to this object online.