Overlap between Baller-Gerold and Rothmund-Thomson syndrome

Clinical Dysmorphology

Volumn 9, Issue 4, 2000, Pages 303-305

  Megarbane, A ^a   Melki, I ^a   Souraty, N ^a   Gerbaka, J ^a   El Ghouzzi, V ^a   Bonaventure, J ^a   Mornand, A ^a   Loiselet, J ^a  

^a Saint Joseph University   (France)

Author keywords

Autosomal recessive; Baller Gerold syndrome; Craniosynostosis; Poikiloderma; Radial hypoplasia; Rothmund Thomson syndrome

Indexed keywords

ARTICLE; CASE REPORT; CONSANGUINITY; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; FACIES; HUMAN; HYPERPIGMENTATION; INTRAUTERINE GROWTH RETARDATION; MALE; MOTOR DEVELOPMENT; NEWBORN; POIKILODERMA; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; SHORT STATURE; SPINE FUSION;

EID: 0033799080     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009040-00018     Document Type: Article

References (8)

1. Is there a Baller-Gerold syndrome?
2. Clonal lines of aneuploid cells in Rothmund-Thomson syndrome
3. RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations
4. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
5. Rothmund-Thomson syndrome in siblings: Evidence for acquired in vivo mosaicism
6. Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome
7. Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome
8. Rothmund-Thomson syndrome associated with trisomy 8 mosaicism