Roberts syndrome: Facial dysmorphology in a mildly affected case

Clinical Dysmorphology

Volumn 18, Issue 4, 2009, Pages 236-237

  Ahmed, Ayesha Ali ^a   Imrie, Stuart ^b   Duncan, Rod ^c   Tolmie, John ^a  

^a Ferguson Smith Centre for Clinical Genetics   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENTROMERE; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER; CYTOGENETICS; ELBOW; FACE MALFORMATION; FEMALE; GENETIC COUNSELING; HUMAN; JOINT CONTRACTURE; LOW BIRTH WEIGHT; NOSE MALFORMATION; PRIORITY JOURNAL; RADIUS; ROBERTS SYNDROME; SYNDROME DELINEATION; CHROMOSOME BANDING PATTERN; CONGENITAL MALFORMATION; CONTRACTURE; CRANIOFACIAL MALFORMATION; FACE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME BANDING; CONTRACTURE; CRANIOFACIAL ABNORMALITIES; ELBOW; FACE; FEMALE; HUMANS; INFANT, NEWBORN; SYNDROME;

EID: 70449732760     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328330209b     Document Type: Article

References (5)

1. Mann NP, Fitzsimmons J, Fitzsimmons E, Cooke P (1982). Roberts syndrome: clinical and cytogenetic aspects. J Med Genet 19:116-119.
2. Petrinelli P, Antonelli A, Marcucci L, Dallapiccola B (1984). Premature centromere splitting in a presumptive mild form of Roberts syndrome. Hum Genet 66:96-99.
3. Stanley WS, Pai GS, Horger EO III, Yan YS, McNeal KS (1988). Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome. Prenat Diagn 8:565-569.
4. Temtamy SA, Ismail S, Helmy NA (2006). Roberts syndrome: study of 4 New Egyptian cases with comparison of clinical and cytogenetic findings. Genetic Counseling 17:1-13.
5. Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, et al. (2005). Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 37:468-470.