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Journal Abstract Search
143 related items for PubMed ID: 16770805
1. Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology. Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS. Am J Med Genet A; 2006 Jul 15; 140(14):1553-63. PubMed ID: 16770805 [Abstract] [Full Text] [Related]
2. Osteocraniosplenic Syndrome-Hypomineralized Skull with Gracile Long Bones and Splenic Hypoplasia: A Case Report and Literature Review. Puvabanditsin S, February M, Stefano VD, Vinod S, Minerowicz C, Hussein K, Mayne J, Mehta R. Genet Couns; 2016 Jul 15; 27(2):149-57. PubMed ID: 29485259 [Abstract] [Full Text] [Related]
3. Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschädel. Spear GS. Am J Med Genet A; 2006 Nov 01; 140(21):2341-8. PubMed ID: 17036309 [Abstract] [Full Text] [Related]
4. Osteocraniostenosis vs. severe Hallermann-Streiff-François syndrome. Verloes A. Am J Med Genet; 1997 Jan 10; 68(1):105-8. PubMed ID: 8986288 [No Abstract] [Full Text] [Related]
5. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull. Müller R, Steffensen T, Krstić N, Cain MA. Am J Med Genet A; 2021 Jun 10; 185(6):1903-1907. PubMed ID: 33750016 [Abstract] [Full Text] [Related]
6. Osteocraniostenosis. Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P. J Med Genet; 1994 Oct 10; 31(10):772-8. PubMed ID: 7837254 [Abstract] [Full Text] [Related]
7. Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature. Christian CL, Lachman RS, Aylsworth AS, Fujimoto A, Gorlin RJ, Lipson MH, Graham JM. Am J Med Genet; 1991 Dec 15; 41(4):508-14. PubMed ID: 1776646 [Abstract] [Full Text] [Related]
8. Lethal syndrome of slender bones, intrauterine fractures, characteristics facial appearance, and cataracts, resembling Hallermann-Streiff syndrome in two sibs. Dennis NR, Fairhurst J, Moore IE. Am J Med Genet; 1995 Dec 04; 59(4):517-20. PubMed ID: 8585575 [Abstract] [Full Text] [Related]
9. Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L. Genes (Basel); 2022 Jan 28; 13(2):. PubMed ID: 35205306 [Abstract] [Full Text] [Related]
13. [Hallermann-Streiff-Francois- syndrome. (Oculo-mandibulo-dyscrania with hypotrichosis). A most characteristic syndrome with dyscrania and hypotrichosis, facial and eye anomalies and dwarfism]. Wiedemann HR, Dibbern H. Med Welt; 1980 Jan 25; 31(4):134-5. PubMed ID: 6767893 [No Abstract] [Full Text] [Related]
14. Sponastrime dysplasia. A radiologic-pathologic correlation. Lachman RS, Stoss H, Spranger J. Pediatr Radiol; 1989 Jan 25; 19(6-7):417-24. PubMed ID: 2771481 [Abstract] [Full Text] [Related]
15. Evaluation and surgical correction of the facial skeletal deformity in Hallermann-Streiff syndrome. Sclaroff A, Eppley BL. Int J Oral Maxillofac Surg; 1987 Dec 25; 16(6):738-44. PubMed ID: 3125273 [Abstract] [Full Text] [Related]
19. Hallermann-Streiff syndrome: a case report from Georgia. Gordeladze M, Paghava I. Georgian Med News; 2011 Apr 25; (193):76-81. PubMed ID: 21617280 [Abstract] [Full Text] [Related]