Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome

Ki Hun Song, Jee Yeon Song, In Kyung Sung, Kyong Su Lee

Clin Exp Pediatr. 1997;40(9):1303-1308. Published online September 15, 1997

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore,...

MOST CITED ACCEPTED ARTICLES

Cited By 40	Prevalence of anxiety, depression, and stress among parents of neonates admitted to neonatal intensive care unit: a systematic review and meta-analysis
Cited By 29	Microplastic and human health with focus on pediatric well-being: a comprehensive review and call for future studies
Cited By 28	Community-acquired pneumonia in children: updated perspectives on its etiology, diagnosis, and treatment
Cited By 25	Metabolic complications of obesity in children and adolescents
Cited By 20	Development of orphan drugs for rare diseases

+more

Authors’ reply: a commentary on “Assessing kidney outcomes in childhood-onset lupus nephritis: role of National Institutes of Health-modified histological indices”

A commentary on “Assessing kidney outcomes in childhood-onset lupus nephritis: role of National Institutes of Health-modified histological indices”

Value of demographic factors in early identification of pediatric malignant vasovagal syncope in head-up tilt test

Effects of induction-phase acute kidney injury and age at diagnosis on chronic kidney disease in pediatric acute lymphoblastic leukemia: a time-to-event cohort study

Context-dependent features of transcriptomic landscapes in pregnant mother-neonate dyads of preeclampsia

+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/)