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2. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome. Matsushita M; Kitoh H; Mishima K; Nishida Y; Ishiguro N Pediatr Radiol; 2014 Dec; 44(12):1617-9. PubMed ID: 24839142 [TBL] [Abstract][Full Text] [Related]
3. Agenesis of the corpus callosum with mental retardation and osseous lesions. Kozlowski K; Ouvrier RA Am J Med Genet; 1993 May; 48(1):6-9. PubMed ID: 8357037 [TBL] [Abstract][Full Text] [Related]
5. A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: another case of the Gurrieri syndrome. Nakane T; Tandou T; Mitsui Y; Hayashibe H; Aihara M; Nakazawa S Am J Med Genet A; 2003 May; 118A(4):398-401. PubMed ID: 12687677 [No Abstract] [Full Text] [Related]
6. A variant of Cenani-Lenz type syndactyly. Seven M; Yüksel A; Ozkiliç A; Elçioğlu N Genet Couns; 2000; 11(1):41-7. PubMed ID: 10756427 [TBL] [Abstract][Full Text] [Related]
7. A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. Alagia M; Cappuccio G; Pinelli M; Torella A; Brunetti-Pierri R; Simonelli F; Limongelli G; Oppido G; Nigro V; Brunetti-Pierri N; Am J Med Genet A; 2018 Feb; 176(2):426-430. PubMed ID: 29230941 [TBL] [Abstract][Full Text] [Related]
9. Hunter-McAlpine syndrome: report of a third family. Adès LC; Morris LL; Simpson DA; Haan EA Clin Dysmorphol; 1993 Apr; 2(2):123-30. PubMed ID: 8281273 [TBL] [Abstract][Full Text] [Related]
10. [Idiopathic multicentric osteolysis with craniodysplasis and mental retardation: a new syndrome? (author's transl)]. Mathias K; Ludwig U Rofo; 1977 Sep; 127(3):255-61. PubMed ID: 143430 [TBL] [Abstract][Full Text] [Related]
11. [Bilateral femoral hypoplasia in an adult male (author's transl)]. Leone G Radiol Med; 1981 Mar; 67(3):141-6. PubMed ID: 7268085 [TBL] [Abstract][Full Text] [Related]
12. [A new form of dysostosis with micromelia in 2 siblings]. Dürr DK Helv Paediatr Acta; 1968 Apr; 23(2):184-94. PubMed ID: 5699022 [No Abstract] [Full Text] [Related]
13. Gollop-Wolfgang syndrome. Dhanakodi N; Tripathy SK Indian J Med Res; 2014 Jun; 139(6):963-4. PubMed ID: 25109738 [No Abstract] [Full Text] [Related]
14. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Nakamura M; Yamagata T; Momoi MY; Yamazaki T Pediatr Neurol; 1998 Aug; 19(2):148-50. PubMed ID: 9744638 [TBL] [Abstract][Full Text] [Related]
15. Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome? Kozlowski K; Sillence D; Taylor F Pediatr Radiol; 1993; 23(6):442-5. PubMed ID: 8255647 [No Abstract] [Full Text] [Related]
16. Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease). Schmidt R; Pajewski M; Mundel G Clin Genet; 1972; 3(2):90-8. PubMed ID: 5054317 [No Abstract] [Full Text] [Related]
17. Femoral hypoplasia--unusual facies syndrome. Daentl DL; Smith DW; Scott CI; Hall BD; Gooding CA J Pediatr; 1975 Jan; 86(1):107-11. PubMed ID: 1110431 [No Abstract] [Full Text] [Related]
18. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family. Meinecke P Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190 [TBL] [Abstract][Full Text] [Related]
19. Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome. Battaglia A; Orsitto E; Gibilisco G Am J Med Genet; 1996 Mar; 62(3):230-2. PubMed ID: 8882779 [TBL] [Abstract][Full Text] [Related]
20. The fifth female patient with Myhre syndrome: further delineation. Becerra-Solano LE; Díaz-Rodriguez M; Nastasi-Catanese JA; Toscano-Flores JJ; Bañuelos-Robles O; Figuera LE; Matute E; de Lourdes Ramírez-Dueñas M Clin Dysmorphol; 2008 Apr; 17(2):113-117. PubMed ID: 18388781 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]