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Journal Abstract Search

300 related items for PubMed ID: 4073130

  • 1. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome?
    Filippi G.
    Am J Med Genet; 1985 Dec; 22(4):821-4. PubMed ID: 4073130
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  • 2. Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation.
    Morillo-Cucci G, Passarge E, Simpson JL, Chaganti RS, German J.
    Birth Defects Orig Artic Ser; 1975 Dec; 11(2):380-3. PubMed ID: 1227554
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  • 4. Filippi syndrome: report of three additional cases.
    Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.
    Am J Med Genet; 1999 Nov 19; 87(2):128-33. PubMed ID: 10533026
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  • 6. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.
    Tonoki H, Kishino T, Niikawa N.
    Am J Med Genet; 1990 May 19; 36(1):89-93. PubMed ID: 2333912
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  • 7. [The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes].
    Mastroiacovo P, Salvaggio E, Parenti D.
    Minerva Pediatr; 1977 Mar 31; 29(11):773-8. PubMed ID: 875947
    [No Abstract] [Full Text] [Related]

  • 8. GOMBO syndrome of growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia: a possible "new" recessively inherited MCA/MR syndrome.
    Verloes A, Delfortrie J, Lambotte C.
    Am J Med Genet; 1989 Jan 31; 32(1):15-8. PubMed ID: 2705477
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  • 10. Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria.
    Zollino M, Battaglia A, D'Avanzo MG, Della Bruna MM, Marini R, Scarano G, Cappa M, Neri G.
    Am J Med Genet; 1994 Sep 01; 52(3):302-7. PubMed ID: 7810561
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  • 11. Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.
    Kelly TE, Kirson L, Wyatt J.
    Am J Med Genet; 1993 Feb 01; 45(3):353-5. PubMed ID: 8434622
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  • 12. Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
    Toriello HV, Higgins JV.
    Am J Med Genet; 1995 Jan 16; 55(2):200-4. PubMed ID: 7717418
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  • 13. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.
    Schinzel A.
    Helv Paediatr Acta; 1980 Jul 16; 35(3):243-51. PubMed ID: 6250998
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  • 19. Smith-Lemli-Optiz syndrome in a 23-year-old man.
    Deaton JG, Mendoza LO.
    Arch Intern Med; 1973 Sep 16; 132(3):422-3. PubMed ID: 4783024
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  • 20. [Familial syndrome of microcephaly with oculocutaneous albinism and digital anomalies].
    Castro-Gago M, Pombo M, Novo I, Tojo R, Peña J.
    An Esp Pediatr; 1983 Aug 16; 19(2):128-31. PubMed ID: 6660641
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