Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms

被引:0
|
作者
Matyskova, Dominika [1 ,2 ]
Richtrova, Michaela [2 ,3 ]
Novotna, Alzbeta [2 ]
Koskova, Olga [1 ,2 ]
机构
[1] Univ Hosp Brno, Dept Burns & Plast Surg, Jihlavska 20, Brno 62500, Czech Republic
[2] Masaryk Univ, Fac Med, Brno, Czech Republic
[3] Univ Hosp Brno, Dept Pediat Anesthesiol & Intens Care, Brno, Czech Republic
关键词
Ring; 18; chromosome; Cleft lip and palate; Acellular dermal matrix; Anesthesia in children; ABNORMAL MYELINATION; GROWTH-HORMONE; PATIENT; CHILD; DEFICIENCY; HYPOTHYROIDISM; MOSAICISM; GIRL; BOY;
D O I
10.1186/s13023-024-03505-2
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
BackgroundRing 18 chromosome is a rare chromosomal aberration associated with a wide range of symptoms affecting all organ systems. One possible symptom associated with this condition is an orofacial cleft. However, to date, there are very few reported cases where the cleft has been surgically treated.Case DescriptionIn our case study, we present a female patient with Ring 18 chromosome who underwent cleft palate surgery at 14 months of age. Subsequently, a reoperation of the palate was necessary due to wound dehiscence. For the secondary reconstruction of the palate, the acellular dermal matrix (ADM) MatriDerm (R) was used to improve healing. The cleft palate surgery progressively improved her ability to take in food, allowing a transition from nasogastric tube feeding to oral intake.ResultsThis is only the fourth reported case of a child with Ring 18 chromosome undergoing surgical correction of an orofacial cleft. Additionally, it is one of the first cases where an ADM MatriDerm (R) was used in the surgical correction of a cleft palate. In this study, we also present a comprehensive literature review, providing an overview of the various symptoms associated with this syndrome.ConclusionCleft palate surgery had a very positive effect on improving food intake in the patient with Ring 18 chromosome. The use of an acellular dermal matrix during the secondary cleft palate surgery led to improved healing and a good outcome.
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页数:8
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