Mental Retardation, Robin Sequence, and Brachydactyly: Further Confirmation of a New Syndrome

American Journal of Medical Genetics

Volumn 126 A, Issue 2, 2004, Pages 204-207

  Gurrieri, Fiorella ^a   Scarano, Gioacchino ^b   Garavelli, Livia ^c   Della Monica, Matteo ^b   Lonardo, Fortunato ^b   Cuda, Domenico ^c   Banchini, Giacomo ^c   Opitz, John M ^d   Neri, Giovanni ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b G RUMMO HOSPITAL   (Italy)

^c S MARIA NUOVA HOSPITAL   (Italy)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Cleft soft palate; New MCA MR syndrome; Robin sequence; Short digits

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; CYTOGENETICS; FACIES; FEMALE; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; KARYOTYPE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPIC VARIATION; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; PSYCHOMOTOR ACTIVITY;

RAPHIA FRATER;

EID: 1842481455     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20575     Document Type: Article

References (3)

1. Gurrieri F, Steindl K, Giglio S, Neri G. 2001. Short report: New Syndrome of mental retardation, Robin sequence, and brachydactyly. Am J Med Genet 100:49-51.
2. Neri G, Gurrieri F, Genuardi M. 1995. Oral-facial-skeletal syndromes. Am J Med Genet 59:365-368.
3. Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AOM. 2000. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet 24:375-378.