A 18 Trigomy syndrome, Probably Combined with DiGeorge Syndrome.
- Author:
Wi In KANG
1
;
Heung Jae LEE
;
Chong Moo PARK
Author Information
1. Department of pediatrics, college of medicine Han Yang University Seoul, Korea.
- Publication Type:Case Report
- MeSH:
Autopsy;
Congenital Abnormalities;
Deglutition;
DiGeorge Syndrome*;
Ear;
Extremities;
Female;
Foot;
Hair;
Humans;
Infant;
Infant, Newborn;
Lip;
Parathyroid Glands;
Thorax;
Thymus Gland;
Trisomy
- From:Journal of the Korean Pediatric Society
1980;23(2):143-148
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A case of 18 trisomy syndrome in a newborn female infant was presented with a brief review of literatures. She was characterized by low brith weight, swallowing difficulty, cleftplate and lip, malformed ears, low hair line, occipital prominence, large atd angle, club feet, adduction deformity of limbs, absence of thymus shadow in a film of chest, and P.D.A. On the chromosomal study, there is 18 trisomy with 18 p-. On the postmortem examination, the thymus and parathyroid gland can not be find on gross and microscoic study, but the immunologic study was not performed. Also, large P.D.A. and hypoplasia of both kidnies were presented.
