Velofacial hypoplasia (Sedlackova syndrome): A variant of velocardiofacial (Shprintzen) syndrome and part of the phenotypical spectrum of del 22q11.2

European Journal of Pediatrics

Volumn 160, Issue 1, 2001, Pages 54-57

  Fokstuen, Siv ^a   Vrticka, Karel ^b   Riegel, Mariluce ^a   Da Silva, Vinzent ^c   Baumer, Alessandra ^a   Schinzel, Albert ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b HNO Klinik   (Switzerland)

^c Kantonsspital Aarau ^*  (Switzerland)

Author keywords

22q11.2 deletion; Velocardiofacial (Shprintzen) syndrome; Velofacial hypoplasia (Sedlackova syndrome)

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; MALE; MOLECULAR BIOLOGY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEDLACKOVA SYNDROME; VELOCARDIOFACIAL SYNDROME; VELOFACIAL HYPOPLASIA;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; SYNDROME;

EID: 0035166998     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310000647     Document Type: Article

References (26)

1. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
2. Submucous clefts and the syndrome of developmental shortening of the palate
3. Rare phenotypes associated with the CATCH22 deletion
4. Velo-cardio-facial syndrome: A review of 120 patients
5. Congenital heart defects and 22q11 deletions: Which genes count?
6. Velocardio-facial syndrome: Frequency and extent of 22q11 deletions
7. Bronchus anomalies associated with Sedlackova syndrome
8. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence
9. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion
10. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
11. A combined analysis of D22S278 marker alleles in affected sib-pairs: Support for a susceptibility locus for schizophrenia at chromosome 22q12
12. Contribution to knowledge of soft palate innervation
13. The syndrome of the congenital shortening of the soft palate (in Czech)
14. The syndromne of the congenitally shortened velum - The dual innervation of the soft palate
15. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis
16. Late-onset psychosis in the velo-cardio-facial syndrome
17. A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velo-cardio-facial syndrome
18. Low frequency of inherited deletions of 22q11
19. Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
20. Congenitally shortened velum investigation of its function
21. Klinische, histologische und histomorphometrische Befunde bei velofacialer Hypoplasie (Sedlackova-Syndrom)
22. Phenotypic discordance in monozygotic twins with 22q11.2 deletion
23. Cardiac malformations in the velo-cardio-facial syndrome
24. Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency