Beals-Hecht syndrome

Southern Medical Journal

Volumn 95, Issue 7, 2002, Pages 753-755

  Jones, Jennifer L ^a   Lane, Joshua E ^a   Logan, James J ^a   Vanegas, Maria E ^a  

^a MERCER UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CEFPROZIL; CEFTRIAXONE; FUROSEMIDE; SALBUTAMOL;

ANTIMICROBIAL THERAPY; ARACHNODACTYLY; ARTICLE; CARDIOVASCULAR DISEASE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; HUMAN; JOINT CONTRACTURE; LUNG DISEASE; MALE; PRESCHOOL CHILD; PROGNOSIS; SCOLIOSIS;

EID: 0036064886     PISSN: 00384348     EISSN: None     Source Type: Journal    
DOI: 10.1097/00007611-200295070-00018     Document Type: Article

References (20)

1. Congenital contractural arachnodactyly (Beals syndrome)
2. Congenital contractural arachnodactyly. A heritable disorder of connective tissue
3. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
4. Overgrowth
5. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2
6. The clinical spectrum of congenital contractural arachnodactyly: A case with congenital heart disease
7. A severe form of congenital contractural arachnodactyly in two newborn infants
8. Cardiac anomalies complicating congenital contractural arachnodactyly
9. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
10. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
11. Fibrillin-1 and fibrilin-2 show temporal and tissue-specific expression in developing elastic tissues
12. Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils
13. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
14. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts
15. A rare branch point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly
16. Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly
17. Skeletal hand charts in inherited connective tissue disease
18. Homocystinuria. A report of two cases and review of the literature
19. Osteogenesis imperfecta. Review of the literature with presentation of 29 cases
20. The distal arthrogryposes: Delineation of new entities, review and nosologic discussion