Two Cases of Seckel Syndrome.
- Author:
Kyu Chang PARK
;
Phil Soo OH
;
Jeh Hoon SHIN
- Publication Type:Original Article
- Keywords:
Seckel syndrome;
Intrauterine growth retardation;
Dwarfism
- MeSH:
Chin;
Dwarfism;
Ear;
Fetal Growth Retardation;
Head;
Intellectual Disability;
Nose
- From:Journal of Korean Society of Pediatric Endocrinology
1998;3(2):228-230
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Seckel syndrome is a rare, autosomal recessive disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. We report hereby the first two Korean cases of typical Seckel syndrome who had characteristic symptoms of intrauterine growth retardation, small head, large eyes, sharp facial features (beaked nose, dysplastic ears and narrow face) with underdeveloped chin, dwarfism, severe mental retardation, and other malformation. We report two cases of Seckel syndrome with a brief review of related literatures.
