Clinical and Experimental Pediatrics

Case Report

Endocrinology

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo

Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28. Published online November 30, 2016

Crossref 3

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S25

Original Article

Genetics and Metabolism

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

Clin Exp Pediatr. 2016;59(1):16-23. Published online January 22, 2016

Crossref 8

Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

DOI: https://doi.org/10.3345/kjp.2016.59.1.16

Case Report

A Case of Ring Chromosome 21 with Multiple Congenital Anomalies

Jun-Hwa Lee, Eul-Ju Seo

Clin Exp Pediatr. 2003;46(3):291-294. Published online March 15, 2003

Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...

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