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Case Report
Neurology
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(Suppl 1):S152-S156.   Published online November 30, 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive...

Original Article
Clinical features of macrocephaly at birth in Korea
Goun Jeong, Minkyun Kim, Byoung Hee Han
Clin Exp Pediatr. 2014;57(2):75-78.   Published online February 24, 2014
Purpose

This study aimed to investigate the clinical features of macrocephaly at birth in Korea using ultrasonography.

Methods

We retrospectively investigated the medical records of full-term birth neonates in Cheil General Hospital & Women's Healthcare Center from January 2000 to June 2012. The following parameters were recorded and analyzed: gestational age, sex, birth weight, height, occipitofrontal circumference (OFC), physical examination, perinatal problems, and...

Case Report
A Case of Glutaric Aciduria Type I with Macrocephaly
Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn
Clin Exp Pediatr. 2003;46(3):295-301.   Published online March 15, 2003
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine...
A Case of Glutaric Aciduria Type 1
Joon Young Song, Cheol Min Kim, Young Lim Shin, Han Wook Yoo
Clin Exp Pediatr. 2002;45(10):1278-1282.   Published online October 15, 2002
Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real...
Three Cases of Apert Syndrome (Acrocephalosyndactyly)
Young Sil Ahn, Jong Won Lee, Jin Keon Bang, Doo Bong Lee
Clin Exp Pediatr. 1994;37(8):1149-1155.   Published online August 15, 1994
Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and...
A Case of Apert's Syndrome.
In Kwyu Park, Kang Ho Kim, Yeong Bong Park, Jin Heon Kim, Chang Soo Ra
Clin Exp Pediatr. 1986;29(9):1002-1006.   Published online September 30, 1986
Apert’s syndrome is an uncommon, congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hand and feet. So there is skull malformation, most often acrocephaly, associated with symmetrical malformation of both hand and feet. This syndrome was first described by Apert in 1906. since that time, over 200 cases have been reported in the...