Výsledky vyhledávání - "L G, Leichtman"

Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome

Autor: L G Leichtman

Publikováno v: Clinical Dysmorphology. 5:61-64

Cardio-facio-cutaneous syndrome is characterized by complex congenital heart disease, characteristic facies, ectodermal abnormalities, growth failure, and mental retardation. It has been described as a distinctive entity from Noonan syndrome. This pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a2998451a0b0caf70b499201cffb61
https://doi.org/10.1097/00019605-199601000-00009

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Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Autor: John M. Opitz, M L Guion-Almeida, A L Aronson, H F Mitchell, R A Price, Nathaniel H. Robin, R A Martin, L G Leichtman, Judith Allanson, Claire O. Leonard, Maximilian Muenke, George J. Feldman, Renata Laxova, Rosanna Weksberg, Barbara K. Burton, Kevin D. Josephson, Kyrieckos A. Aleck

Publikováno v: Nature Genetics. 11:459-461

Opitz syndrome (OS, McKusick 145410) is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e543781a9b0c7e55f799c3fb85bca81b
https://doi.org/10.1038/ng1295-459

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Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: case report and comparison with trisomy 9p

Autor: L G, Leichtman, J L, Zackowski, P D, Storto, A, Newlin

Publikováno v: American journal of medical genetics. 63(3)

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9c42cd8005ee27dfd3908652900cceef
https://pubmed.ncbi.nlm.nih.gov/8737648

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An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?

Autor: N J Carpenter, S Stamper, B Say, L G Leichtman

Publikováno v: Journal of Medical Genetics. 18:234-236

A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac5e197193484ad0868db6440383e5ed
https://doi.org/10.1136/jmg.18.3.234

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The Gordon syndrome

Autor: D H Barber, L G Leichtman, B Say, R C Thompson

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e31b1e9221841b49cdb0c2819e916ea
https://europepmc.org/articles/PMC1048612/

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Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin

Autor: N J, Carpenter, L G, Leichtman, B, Say

Publikováno v: American journal of diseases of children (1960). 136(5)

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 disorder.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3ba9f88ca56b1da2415a9ff58a3d638b
https://pubmed.ncbi.nlm.nih.gov/7081157

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