An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

Tan, Sue Lyn; Ahmad Narihan, Muhammad Ghazali Bin; Koa, Ai Jiun

Tan, Sue Lyn; Ahmad Narihan, Muhammad Ghazali Bin; Koa, Ai Jiun.

Affiliation

Tan SL; Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, Kota Samarahan, Sarawak, 94300, Malaysia. sltan@unimas.my.
Ahmad Narihan MGB; Department of Paediatrics, Sarawak General Hospital, Jalan Hospital, Kuching, Sarawak, 93586, Malaysia.
Koa AJ; Department of Radiology, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Jalan Datuk Muhammad Musa, Kota Samarahan, Sarawak, 94300, Malaysia.

BMC Pediatr ; 23(1): 541, 2023 10 28.

Article in En | MEDLINE | ID: mdl-37898736

Subject(s)

Coffin-Lowry Syndrome; Hypertriglyceridemia; Intellectual Disability; Male; Infant, Newborn; Humans; Infant; Coffin-Lowry Syndrome/complications; Coffin-Lowry Syndrome/diagnosis; Coffin-Lowry Syndrome/genetics; Face/pathology; Intellectual Disability/genetics; Intellectual Disability/complications; Mutation; Hypertriglyceridemia/complications; Hypertriglyceridemia/diagnosis

Key words

Coffin-Lowry syndrome; Hypertriglyceridemia; Intrauterine growth restriction; Lipaemic plasma

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypertriglyceridemia / Coffin-Lowry Syndrome / Intellectual Disability Limits: Humans / Infant / Male / Newborn Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2023 Document type: Article Affiliation country: Malaysia

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