The metacarpophalangeal profile in a family with congenital contractural arachnodactyly

Genetic Counseling

Volumn 11, Issue 1, 2000, Pages 57-58

  Guala, Andrea ^a   Danesino, C ^b   Milewicz, D M ^b   Putnam, E A ^b   Franceschini, P ^b  

^a SANT'ANDREA HOSPITAL   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARACHNODACTYLY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; HUMAN; HUMAN CELL; MALE;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; CONTRACTURE; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; METACARPOPHALANGEAL JOINT;

EID: 0034007407     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. DE OLIVEIRA SOBRINHO R.P., MORETTI-FERREIRA D., CONTINI A., JANOVITZ NORATO D.Y.: Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients. Am. J. Med. Genet., 1997, 72, 159-163.
2. DIJKSTRA P.F.: Cerebral gigantism: metacarpophalangeal pattern profiles. Fortschr. Geb. Rontgestr. Nuklearmed. Ergangzungsband., 1985, 143, 183-185.
3. DIJKSTRA P.F., COLE T.R.P., OORTHIUS J.W.E., VENEMA K.W., OOSTING J., NOCKER R.E.T.: Metacarpophalangeal pattern profile analysis in Sotos and Marfan syndrome. Am. J. Med. Genet., 1994, 51, 55-60.
4. POZNANSKI A.K., GARN S.M., NAGY J.M. GALL J.C.: Metacarpophalangeal pattern profile in the evaluation of skeletal malformations. Radiology, 1972, 104, 1-11.
5. PUTNAM E.A., ZHANG H., RAMIREZ F., MILEWICZ D.M.: Fibrillin-2 mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genet., 1995, 11, 456-458.
6. VILJOEN D.: Congenital contractural arachnodactyly (Beals syndrome). J. Med. Genet., 1994, 31, 640-643.
7. WANG M., CLERICUZIO C.L., GODFREY M.: Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2 . Am. J. Hum. Genet., 1996, 59, 1027-1034.