Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Lawrence G Leichtman"'
Publikováno v:
American Journal of Medical Genetics. 50:39-41
We describe an infant with a unique pattern of midline defects, including anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, and micrognathia. CNS anomalies including massive hydrocephalus with destruction of most recognizable structure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae8adb640a48e996f79faae242fcf52
https://doi.org/10.1002/ajmg.1320500108
https://doi.org/10.1002/ajmg.1320500108
Publikováno v:
Journal of pediatric ophthalmology and strabismus. 36(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29578e7e2823cc06cd41121570a9d454
https://pubmed.ncbi.nlm.nih.gov/9972513
https://pubmed.ncbi.nlm.nih.gov/9972513
Publikováno v:
Arthritis and rheumatism. 40(5)
This report describes an infant with multiple congenital anomalies born to a 20-year-old mother with juvenile rheumatoid arthritis who had been taking weekly low-dose methotrexate (MTX) during the first trimester of pregnancy. The abnormalities found
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8172bf5ee4b0bb583debfc79d6a8bb65
https://pubmed.ncbi.nlm.nih.gov/9153561
https://pubmed.ncbi.nlm.nih.gov/9153561
Autor:
Anna Newlin, Arthur R. Brothman, Susan E. Phillips, Lawrence G. Leichtman, Gretchen Q. Kinzie
Publikováno v:
Clinical genetics. 44(3)
An unusual case of an X chromosome with a pericentric inversion (p11.3q21.3) was detected prenatally in a male fetus. This inversion has not been previously characterized. Although the inverted chromosome was transmitted through the mother, no living
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9921961c1757bf7b37f858bc9e190220
https://pubmed.ncbi.nlm.nih.gov/8275571
https://pubmed.ncbi.nlm.nih.gov/8275571
Publikováno v:
American journal of medical genetics. 40(2)
We describe a patient with a paracentric inversion and partial duplication of chromosome 5p. In addition this patient presented with a malformation pattern consistent with Opitz BBBG syndrome. This implies that the gene responsible for this single ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfdb7801233578d6b66325349ede777c
https://pubmed.ncbi.nlm.nih.gov/1897571
https://pubmed.ncbi.nlm.nih.gov/1897571
Publikováno v:
American Journal of Medical Genetics. 45:677-678
We present a patient with an interstitial deletion of the chromosome 1q21->q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c591f4d261446bf62bfb919a99127465
https://doi.org/10.1002/ajmg.1320450604
https://doi.org/10.1002/ajmg.1320450604
Publikováno v:
American journal of diseases of children (1960). 133(11)
This syndrome of multiple congenital malformations was first described in 1974 in two sisters by Pena and Shokeir. 1 Two unrelated, similarly affected infants were described concurrently by Punnett et al. 2 The possibility of autosomal recessive inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fb8530b9c11fd138854b44bf825547
https://pubmed.ncbi.nlm.nih.gov/507013
https://pubmed.ncbi.nlm.nih.gov/507013
Autor:
Lawrence G. Leichtman, Eugene J. Sidoti, Robert J. Shprintzen, Mary Jo E. Harrod, Annemarie Sommer, James W. Hanson, Theresa Young-Wee, M. Michael Cohen, John A.R. Tibbles, Rosalie Goldberg, Holly H. Ardinger, H. Eugene Hoyme, J. Philip Welch
Publikováno v:
The Journal of pediatrics. 108(2)
Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4135b7e67c94de4ce4cc1e3d740bde7
https://pubmed.ncbi.nlm.nih.gov/2418189
https://pubmed.ncbi.nlm.nih.gov/2418189
Publikováno v:
The Journal of Pediatrics. 96:950-951
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fb81d0d01f939a0cbf771b36eed71
https://doi.org/10.1016/s0022-3476(80)80591-9
https://doi.org/10.1016/s0022-3476(80)80591-9
Publikováno v:
American Journal of Diseases of Children. 136:392
• Fragile X-linked mental retardation is a recently described entity that includes a chromosomal fragile site at Xq28 and macro-orchidism. We studied 50 institutionalized males and 15 noninstitutionalized males and found six (9.2%) with this disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::68917d7c3a5108c198f478cf8016432a
https://doi.org/10.1001/archpedi.1982.03970410010002
https://doi.org/10.1001/archpedi.1982.03970410010002