Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2784-2787

  Carvalho, Daniel Rocha ^a,b   Santos, Savana Camilla Lima ^a   Oliveira, Maria Dulce Valverde ^a   Speck Martins, Carlos Eduardo ^a  

^a SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^b UNIVERSITY OF BRASILIA   (Brazil)

Author keywords

Absence of tibia; Chromosome deletion; Exostoses; Langer Giedion syndrome; Tibial hemimelia

Indexed keywords

ADOLESCENT; ARTICLE; BONE RADIOGRAPHY; BRAIN DECOMPRESSION; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DAILY LIFE ACTIVITY; DISEASE ASSOCIATION; EXOSTOSIS; FACIES; FAMILY HISTORY; GENETIC ASSOCIATION; HEMIMELIA; HUMAN; HYPOPLASIA; INTERSTITIAL CHROMOSOME DELETION; KYPHOSCOLIOSIS; LIMB PROSTHESIS; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROMOTER REGION; SELF CARE; SOCIAL SUPPORT; SPASTIC PARESIS; SPINAL CORD INJURY; TREATMENT INDICATION; VERTEBRA MALFORMATION;

ABNORMAL KARYOTYPE; ADOLESCENT; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; DNA-BINDING PROTEINS; ECTROMELIA; HUMANS; LANGER-GIEDION SYNDROME; MALE; N-ACETYLGLUCOSAMINYLTRANSFERASES; TIBIA; TRANSCRIPTION FACTORS;

EID: 80054881432     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34233     Document Type: Article

References (10)

1. Holmes LB. 2002. Teratogen-induced limb defects. Am J Med Genet 112: 297-303.
2. Lüdecke HJ, Johnson C, Wagner MJ, Wells DE, Turleau C, Tommerup N, Latos-Bielenska A, Sandig KR, Meinecke P, Zabel B, Horsthemke B. 1991. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am J Hum Genet 49: 1197-1206.
3. Lüdecke HJ, Wagner MJ, Nardmann J, LaPillo B, Parrish JE, Willems PJ, Haan EA, Frydman M, Hamers GJH, Wells DE, Horsthemke B. 1995. Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet 4: 31-36.
4. Naveed M, Al-Ali MT, Murthy SK, Al-Hajali S, Al-Khaja N, Deutsch S, Bottani A, Antonarakis SE, Nath SK, Radhakrishna U. 2006. Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: Clinical and genetic analysis. Am J Med Genet A 140: 1440-1446.
5. Richieri-Costa A, Ferrareto I, Masiero D, da Silva CR. 1987. Tibial hemimelia: Report on 37 new cases, clinical and genetic considerations. Am J Med Genet 27: 867-884.
6. Shanske AL, Patel A, Saukam S, Levy B, Lüdecke HJ. 2008. Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13). Am J Med Genet A 146: 3211-3216.
7. Stevens CA, Moore CA. 1999. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Am J Med Genet 85: 409-412.
8. Stevenson RE. 2006. Limbs. In: Stevenson RE, Hall JG, editors. Human Malformations and Related Anomalies, 2e. Oxford: Oxford University Press. p 835-933.
9. Turleau C, Chavin-Colin F, de Grouchy J, Maroteaux P, Rivera H. 1982. Langer-Giedion syndrome with and without del 8q. Assignment of critical region to 8q23. Hum Genet 62: 183-187.
10. Webster WS, Abela D. 2007. The effect of hypoxia in development. Birth Defects Res C Embryo Today 81: 215-228.