Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Saroj Kapur"'
Publikováno v:
Clinical Genetics. 18:88-90
A family is described in which half-siblings, a boy and a girl born to unrelated mothers and a phenotypically normal father, were affected with omphalocele. The suggested mode of transmission remains unclear. Prenatal diagnosis to detect an affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9324742abdcf10abbe52a069e64bddc1
https://doi.org/10.1111/j.1399-0004.1980.tb01370.x
https://doi.org/10.1111/j.1399-0004.1980.tb01370.x
Autor:
Mohamed H. El-Fouly, Maria Costa-Fox, James V. Higgins, Beverly J. Sankey, David N. Matisoff, Saroj Kapur
Publikováno v:
American Journal of Medical Genetics. 38:569-573
A term white girl presented with low birth weight, minor anomalies, and congenital heart defects. The infant had microcephaly, upslanting palpebral fissures, prominent nasal bridge, short philtrum, thin upper lip vermilion, down-turned corners of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a32b89ad8e2f9d2e95d4c714bebff01
https://doi.org/10.1002/ajmg.1320380415
https://doi.org/10.1002/ajmg.1320380415
Autor:
Padmani Karna, Saroj Kapur
Publikováno v:
Clinical genetics. 46(2)
We report a sporadic case of complete diphallus with multiple other anomalies in a premature newborn. Chromosomal analysis at the 500 band level showed an apparently balanced reciprocal translocation 46,XY, t(1;14)(p36.3;q24.3). The mother has a norm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a5dba5d9d55c5bda9622b9349193748
https://pubmed.ncbi.nlm.nih.gov/7820932
https://pubmed.ncbi.nlm.nih.gov/7820932
Autor:
Saroj Kapur, Helga V. Toriello
Publikováno v:
American journal of medical genetics. 41(4)
We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8c8af6c862f1e983c404ec2cab92bc
https://pubmed.ncbi.nlm.nih.gov/1776630
https://pubmed.ncbi.nlm.nih.gov/1776630
Publikováno v:
American Journal of Medical Genetics. 33:357-363
We report on a syndrome of widow's peak, ptosis, skeletal abnormalities and other minor anomalies in a large family. The condition appears to be inherited in an X-linked dominant fashion. No similar cases have been found in the literature, suggesting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c58ab23fc95f1ed402777349c0c00e4f
https://doi.org/10.1002/ajmg.1320330314
https://doi.org/10.1002/ajmg.1320330314
Autor:
Saroj Kapur, James V. Higgins, Kathleen J. Delp, James F. Reynolds, John M. Opitz, Brian Rogers
Publikováno v:
American Journal of Medical Genetics. 26:503-510
We report on a girl with Menkes syndrome (M.S.) and X-2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xq13. This case and other previous case reports of X-linked disorders in females suggest that chromosome an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da486379ee8bb3f424e24da5b9f63d9
https://doi.org/10.1002/ajmg.1320260230
https://doi.org/10.1002/ajmg.1320260230
Autor:
Saroj Kapur, Ada Van Vloten
Publikováno v:
Clinical genetics. 29(2)
An infant with prenatal bowed long bones is reported. History of bowed leg bones in the mother during her infancy and improvement of the bowed bones in the child and mother support benign nature of the condition and probable A.D. inheritance.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab7f417b5eb0cdbfd44bc654e1b2342
https://pubmed.ncbi.nlm.nih.gov/3955869
https://pubmed.ncbi.nlm.nih.gov/3955869
Publikováno v:
Pediatric Research. 18:307A-307A
Males with Down syndrome have been reported with cryptorchidism and hypospadias but not with frankly feminine external genitalia. We report such a patient. The 3020 g. white infant was the product of a full-term pregnancy in a 33-year-old gravida 2 p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf43fa598300449de84dc7752d4f6bbb
https://doi.org/10.1203/00006450-198404001-01285
https://doi.org/10.1203/00006450-198404001-01285
Publikováno v:
American Journal of Diseases of Children. 135:532
• Congenital pulmonary lymphangiectasis (CPL) is a rare, generalized disease of the lung, consisting of lymphatic cysts in the subpleural and interlobular connective tissue. This disorder typically manifests a clinical picture of acute respiratory
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365d9767f85b7d27f49fac8bbbe50d8
https://doi.org/10.1001/archpedi.1981.02130300032012
https://doi.org/10.1001/archpedi.1981.02130300032012