CHILD syndrome: Clinical picture and diagnostic procedures [28]

Journal of the European Academy of Dermatology and Venereology

Volumn 21, Issue 5, 2007, Pages 715-716

  Kamiǹska Winciorek, Gaga ^a   Brzezinska Wcislo L ^a   Jezela Stanek, A ^b   Krajewska Walasek, M ^b   Cunningham, D ^c   Herman, G E ^c  

^a MEDICAL UNIVERSITY OF SILESIA   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; STEROL;

ADULT; BONE RADIOGRAPHY; CASE REPORT; CELL CULTURE; CHOLESTEROL SYNTHESIS; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DIAGNOSTIC PROCEDURE; DISEASE COURSE; DNA SEQUENCE; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; LETTER; LIMB DEFECT; MASS SPECTROMETRY; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STEROL ANALYSIS; SYNDROME CHILDS; TISSUE CULTURE; VISUAL SYSTEM EXAMINATION; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; ICHTHYOSIS, X-LINKED; LIMB DEFORMITIES, CONGENITAL; MUTATION; SYNDROME;

EID: 34250345151     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2006.02015.x     Document Type: Letter

References (5)

1. Happle R, Koch H, Lenz W. The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 1980; 134: 27-33.
2. Zellweger H, Uehlinger E. Ein Fall von halbseitiger Knochenchondromatose (Ollier) mit Naevus ichthyosiformis. Helv Paediatr Acta 1948; 2: 153-163.
3. Bornholdt D, Konig A, Happle R et al. Mutational spectrum of NSDHL in CHILD syndrome. J Medical Genet 2005; 42: E17.
4. Liu XY, Dangel AW, Kelley RI et al. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet 1999; 22: 182-187.
5. König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 2000; 90: 339-346.