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Quoted phrase not found in phrase index: "Short stature and microcephaly with genital anomalies"
Page 1
Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.
Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM. Visootsak J, et al. J Pediatr. 2004 Dec;145(6):819-25. doi: 10.1016/j.jpeds.2004.07.041. J Pediatr. 2004. PMID: 15580208
RESULTS: Contrary to initial reports, our men with BFLS had no microcephaly, seizures, or short stature. They manifested deep-set eyes with large ears, coarse facial features, small external genitalia, gynecomastia, and obesity. ...
RESULTS: Contrary to initial reports, our men with BFLS had no microcephaly, seizures, or short stature. They manifeste …
Fanconi anemia: a single center experience of a large cohort.
Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F. Kesici S, et al. Turk J Pediatr. 2019;61(4):477-484. doi: 10.24953/turkjped.2019.04.002. Turk J Pediatr. 2019. PMID: 31990462 Free article.
Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short stature, progressive bone marrow failure and predisposition to leukemia and solid tumors. ...Short stature was present in 75.4% of the patients. Of the 175 pa …
Fanconi anemia (FA) is an inherited disease, characterized by congenital malformations, short stature, progressive bone marrow …
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959
Height is dependent on ethnic background and underlying molecular cause, with ORC1 and ORC4 mutations causing more severe short stature and microcephaly. Growth hormone therapy (n = 9) was generally ineffective, though in two patients with significantly reduc …
Height is dependent on ethnic background and underlying molecular cause, with ORC1 and ORC4 mutations causing more severe short st …