Omodysplasia: An affected mother and son

American Journal of Medical Genetics

Volumn 111, Issue 2, 2002, Pages 169-177

  Venditti, Charles P ^a   Farmer, Jennifer ^b   Russell, Karen L ^a   Friedrich, Christopher A ^c   Alter, Craig ^a   Canning, Douglas ^a   Whitaker, Linton ^a   Mennuti, Michael T ^b   Driscoll, Deborah A ^a,b   Zackai, Elaine H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

Omodysplasia; Robinow syndrome; Shortened humeri

Indexed keywords

ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS ECHOGRAPHY; GENITAL MALFORMATION; HUMAN; HUMERUS; MALE; METACARPAL BONE; NEWBORN; OMODYSPLASIA; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; ROBINOW SYNDROME; VERTICAL TRANSMISSION; CONGENITAL MALFORMATION; DWARFISM; ECHOGRAPHY; FACE; FEMUR; GENETICS; GROWTH DISORDER; HAND MALFORMATION; MOTHER; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; RADIOGRAPHY; REVIEW;

ABNORMALITIES, MULTIPLE; ADULT; CASE REPORT; DWARFISM; FACE; FEMALE; FEMUR; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMAN; HUMERUS; INFANT, NEWBORN; MALE; MOTHERS; OSTEOCHONDRODYSPLASIAS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; HUMANS;

EID: 4243238320     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10555     Document Type: Article

References (23)

1. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
2. Autosomal recessive omodysplasia
3. Parental consanguinity in two sibs with omodysplasia
4. Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome
5. Nosology of omodysplasia
6. Robinow syndrome: Report of two patients and review of literature
7. Metacarpophalangeal pattern profile analysis in Robinow syndrome
8. The Robinow syndrome: An isolated case with a detailed study of the phenotype
9. Rhizomelic bone dysplasia with club-like femora (case report and confirmation of a syndrome)
10. Reply to Borochowitz et al.
11. Omodysplasia
12. Autosomal recessive omodysplasia: Report of three additional cases
13. Autosomal dominant Robinow syndrome with rhizomelic brachymelia
14. Robinow syndrome
15. The Robinow (fetal face) syndrome: A continuing puzzle
16. Standards for limb bone length ratios in children
17. A newly recognized dwarfing syndrome
18. Male-to-male transmission of Robinow syndrome: Its occurrence in association with cleft lip and cleft palate
19. Autosomal recessive omodysplasia
20. Syndrome de Robinow a transmission dominante
21. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
22. Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome)