The small patella syndrome: Description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome [11]

Journal of Medical Genetics

Volumn 38, Issue 3, 2001, Pages 209-213

  Bongers, E M H F ^a   Van Bokhoven, H ^a   Van Thienen, M N ^a   Kooyman, M A P ^a   Van Beersum, S E C ^a   Boetes, C ^a   Knoers, N V A M ^a   Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELISM; APLASIA; BONE MALFORMATION; BONE RADIOGRAPHY; CHILD; CHROMOSOME 17Q; CHROMOSOME 9Q; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HYPOPLASIA; LETTER; MALE; NAIL PATELLA SYNDROME; PATELLA; PRIORITY JOURNAL;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 9; DNA; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; NAIL-PATELLA SYNDROME; PATELLA; PEDIGREE; SYNDROME;

EID: 0035082105     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (19)

1. The 'small patella' syndrome
2. Ischiopatellare dysplasie (Syndrome der "kleinen Patella" von Scott und Taor)
3. Le syndrome coxo-podopatellaire
4. A new patella syndrome
5. "The small patella syndrome": Eine kombination von knie-und beckendysplasie
6. Small patella syndrome
7. The 'small-patella' syndrome, hereditary osteodysplasia of the knee, pelvis and foot
8. Editorial comments on the ischio-pubic-patellar syndrome
9. Small patella syndrome: A bone dysplasia to recognize and differentiate from the nail-patella syndrome
10. Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22
11. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
12. Congenital coxa vara, patella aplasia and tarsal synostosis: A new inherited syndrome
13. Ischio-pubic-patella hypoplasia: Is it a new syndrome?
14. Familial absence of the patella
15. Familial aplasia or hypoplasia of the patella
16. Patella a/hypoplasia occurring in familial way
17. A simple salting out procedure for extracting DNA from human nucleated cells
18. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p
19. A comprehensive genetic map of the human genome based on 5,264 microsatellites