A Case of Schinzel-Giedion Syndrome.
- Author:
Min Jee JEOUNG
1
;
Hyung Eun YIM
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
;
Soon Kyum KIM
Author Information
1. Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea. guroped@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Schinzel-Giedion syndrome;
Urinary tract infection;
Nephrocalcinosis;
Klebsiella pneumoniae
- MeSH:
Constriction, Pathologic;
Ear;
Extremities;
Female;
Forehead;
Humans;
Hydronephrosis;
Hypertelorism;
Hypertrichosis;
Hypospadias;
Infant;
Intellectual Disability;
Klebsiella pneumoniae;
Male;
Nephrocalcinosis;
Nose;
Quadriplegia;
Seizures;
Tongue;
Urinary Tract Infections
- From:Journal of the Korean Society of Pediatric Nephrology
2004;8(1):57-62
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Schinzel-Giedion syndrome is a rare, distinct dysmorphic syndrome characterized by congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation, likely to be inherited as an autosomal recessive trait, but not yet confirmed. This syndrome is characterized by coarse facial features such as midfacial retraction, bulging forehead, short nose with anteverted nostrils, low-set malformed ears, protruding large tongue, and hypertelorism. Skeletal and limb defects, choanal stenosis, simian creases, hypospadias, microphallus, hypertrichosis, and intractable seizures are the frequently associated clinical findings. Urogenital involvement is a major component of the syndrome, and this problem sometimes is associated with nephrocalcinosis and urinary tract infection in the clinical course of the disease. We report a 22 month-old girl with Schinzel-Giedion syndrome complicated by medullary nephrocalcinosis and urinary tract infection due to Klebsiella pneumoniae. This patient had also been suffering from postnatal growth deficiency, intractable seizure, spastic tetraplegia, delayed development and severe mental retardation.
