Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sonya Rae Arnold"'
Publikováno v:
American Journal of Medical Genetics. :179-182
We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline development
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9359242f6a881ce4c415b29133a37cb6
https://doi.org/10.1002/ajmg.a.10763
https://doi.org/10.1002/ajmg.a.10763
Autor:
Sonya Rae Arnold, Jill Steigelfest, Herbert H. Pomerance, Mudra Kohli-Kumar, Enid Gilbert Barness
Publikováno v:
The Journal of Pediatrics. 137:114-118
A 15-year-old boy was brought to the emergency department by his parents, who were concerned about his mental status and incoherent speech. He had hematemesis earlier in the day. Four days before admission, the patient had multiple episodes of non-bl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10800133841c2437092bdd4a329ca53c
https://doi.org/10.1067/mpd.2000.105357
https://doi.org/10.1067/mpd.2000.105357
Publikováno v:
Pediatric Pathology & Molecular Medicine. 19:481-486
(2000). Fibrous Hamartoma of Infancy: Pediatric Pathology Case. Pediatric Pathology & Molecular Medicine: Vol. 19, No. 6, pp. 481-486.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9713d890e8857670ee8a29440be80aac
https://doi.org/10.1080/15513810009168655
https://doi.org/10.1080/15513810009168655
Autor:
John M. Opitz, Diane Debich-Spicer, Sonya Rae Arnold, Enid Gilbert-Barness, Reuben Quintero, Thomas Mueller
Publikováno v:
American journal of medical genetics. Part A. (3)
One of the commonest defects of blastogenesis is monozygotic twinning resulting in separate or conjoint twins, the latter including a category of internal, "endoparasitic," or fetus-in-fetu twins. We report the third known instance of endoparasitic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ff7245b0279895385df25d40147b69c
https://pubmed.ncbi.nlm.nih.gov/12838564
https://pubmed.ncbi.nlm.nih.gov/12838564
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2(2)
Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and sk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b123f0bc298135f2acdfdb3297483655
https://pubmed.ncbi.nlm.nih.gov/9949225
https://pubmed.ncbi.nlm.nih.gov/9949225