Search

  • HOME
  • Search
Case Report
A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type)
So Young Lee, Sung Min Cho
Clin Exp Pediatr. 2003;46(8):831-835.   Published online August 15, 2003
Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type)...
A Case of Holoprosencephaly, Alobar Type
Kyu Sun CHoi, Kang Seo Park, Young Tack Jang, Wan Seob Kim
Clin Exp Pediatr. 1992;35(3):390-394.   Published online March 15, 1992
A case of Holoprosencephaly, alobar type , was presented here and 13-month follow-up has been made. He had dyspnea, polikilothermia, frequent atypical seizures, hypernatremia & pitressinresponsive Diabetes insipidus as clinical manifeststions. Chromosome studies showed normal male karyotype (46XY). The diagnosis was confirmed by brain CT scan. A brief review of the related literature was made.
Original Article
A case of holoprosencephaly.
Jin Eun Hyun, Eun Hee Park, Hee Young Jeon, Whwa Jin Byeun, Young Mok Hwang, Yeon Jin Kim, Cheol Soo Kim
Clin Exp Pediatr. 1991;34(12):1712-1716.   Published online December 31, 1991
Holoprosencephaly is a congenital malformation complex involving developmental failure in normal cleavage of the forebrain into hemispheres and varying degrees of median facial deformities. We experienced a case of lobar holoprosencephaly in a one day old girl who showed median facial deformities and reviewed the references concerning holoprosencephaly briefly.
A case of Prune Belly syndrome associated with holoprosencephaly.
Myung Hee Youn, Mi Sung Jeong, Hyung Ja Park, Shinna Kim, Keum Min Park, Song Ja Chin
Clin Exp Pediatr. 1991;34(7):1015-1021.   Published online July 31, 1991
This is brief report of a case of prune belly syndrome associated with holoprosencephaly in one-day old neonate. At birth, physical examination revealed skull bone defect, anophthalmia, severe hypotelorism, arhinia with proboscis, micrognathia, webbed neck, severely dilated abdomen with thin wall, agenesis of external urogenital organs and anus, equinovalgus and genu valgus. Autopsy findings were alobar holoprosencephaly with hydrocephalus, hypoplasia of lung and ribs, markedly dilated...
A case of Holoprosencephaly.
Won Chil Lee, In Chae Kim, Kung Min Lee, Chull Zoo Jung, Wang Bok Lee
Clin Exp Pediatr. 1988;31(12):1674-1679.   Published online December 31, 1988
A case of Holoprosencephaly, alobar type in 1-day-old female infant was presented. This patient manifested median facial defects and had extracranial anomaly such as cardiac defects. Chromosome studies showed a normal female karyotype with 46 chromosomes. The diagnosis was confirmed by brain CT scan and autopsy. A brief review of literature was made.
Case Report
A Case of Holoprosencephaly.
Cook Huh, Seung Ha Rheu, Young Gun Kim, Baek Keun Lim, Jong Soo Kim
Clin Exp Pediatr. 1983;26(11):1125-1128.   Published online November 30, 1983
We experienced, a case of holoprosencephaly with no extracranial annormalities, normal chromosme count and karyotype. The diagnosis was confirmed by brain C-T scan, which was compatible to semilobar type of holoprosencephaly. The patient is living now at 2 years old. Review of the references concerning holoprosencephaly was made briefly.
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)