Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi

Clin Exp Pediatr. 2014;57(6):292-296. Published online June 30, 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

DOI: https://doi.org/10.3345/kjp.2014.57.6.292

Original Article

A case of atypical neurofibromatosis type 1.

Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim

Clin Exp Pediatr. 1991;34(7):1034-1039. Published online July 31, 1991

Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin. These macules are thought to be early sign of neurofibromatosis in childhood. We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly. We confirmed the...

MOST CITED ACCEPTED ARTICLES

Cited By 20	Neurodevelopmental outcomes of preterm infants
Cited By 19	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 17	Association of gut microbiota with obesity in children and adolescents
Cited By 14	Gut microbiota affects brain development and behavior
Cited By 14	Nonalcoholic fatty liver disease and insulin resistance in children

+more

Association between macrophage migration inhibitory factor gene and growth differentiation factor 15 gene polymorphisms and circulating levels with respiratory distress syndrome among preterm neonates

Role of miRNA-146a and miRNA-125b in Helicobacter pylori

Clinical course of children with postinfectious bronchiolitis obliterans with versus without comorbid bronchopulmonary dysplasia

Myopia: a review of current concepts, association with nonophthalmological conditions, and treatment strategy in children and adolescents

Effect of vitamin C supplement in treatment of childhood pneumonia requiring hospitalization: A randomized controlled trial

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)