164 related articles for article (PubMed ID: 17159509)
1. Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
García-Ortiz JE; García-Cruz D; Dávalos IP; Nazará Z; García-Cruz MO; Castañeda V; Gutiérrez-Mendivil L; Sánchez-Corona J
Clin Dysmorphol; 2007 Jan; 16(1):15-20. PubMed ID: 17159509
[TBL] [Abstract][Full Text] [Related]
2. Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity.
Silengo MC; Bell GL; Biagioli M; Guala A; Bianco R; Strandoni P; De Sario PN; Franceschini P
Clin Genet; 1986 Dec; 30(6):481-4. PubMed ID: 3815881
[TBL] [Abstract][Full Text] [Related]
3. An apparently new mental retardation syndrome in three elderly sisters.
Viljoen DL; Kallis J; Voges S; Marais AS; van Vuuren I
Clin Genet; 1991 Jul; 40(1):6-11. PubMed ID: 1884519
[TBL] [Abstract][Full Text] [Related]
4. Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: a new autosomal recessive MCA/MR syndrome?
Kondoh T; Yamamoto T; Kono Y; Matsumoto T; Sugawara H; Matsumoto N; Moriuchi H
Am J Med Genet; 2001 Jul; 102(1):63-7. PubMed ID: 11471174
[TBL] [Abstract][Full Text] [Related]
5. A case of Filippi syndrome with atypical limb defects in a 3-year-old boy and a review of the literature.
Cabala M; Stevens SJC; Smigiel R
Clin Dysmorphol; 2013 Oct; 22(4):146-148. PubMed ID: 23863342
[No Abstract] [Full Text] [Related]
6. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Lehalle D; Gordon CT; Oufadem M; Goudefroye G; Boutaud L; Alessandri JL; Baena N; Baujat G; Baumann C; Boute-Benejean O; Caumes R; Decaestecker C; Gaillard D; Goldenberg A; Gonzales M; Holder-Espinasse M; Jacquemont ML; Lacombe D; Manouvrier-Hanu S; Marlin S; Mathieu-Dramard M; Morin G; Pasquier L; Petit F; Rio M; Smigiel R; Thauvin-Robinet C; Vasiljevic A; Verloes A; Malan V; Munnich A; de Pontual L; Vekemans M; Lyonnet S; Attié-Bitach T; Amiel J
Hum Mutat; 2014 Apr; 35(4):478-85. PubMed ID: 24470203
[TBL] [Abstract][Full Text] [Related]
7. Goldberg-Shprintzen syndrome: report of a new family and review of the literature.
Fryer AE
Clin Dysmorphol; 1998 Apr; 7(2):97-101. PubMed ID: 9571278
[TBL] [Abstract][Full Text] [Related]
8. Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Isobe A; Maeda N; Fujita H; Banno S; Kageyama T; Hatabu N; Sato R; Suzuki E; Miharu M; Komiyama O; Nakashima M; Matsunaga T; Nishimura G; Yamazawa K
Am J Med Genet A; 2021 Mar; 185(3):952-954. PubMed ID: 33369046
[No Abstract] [Full Text] [Related]
9. A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities.
Keller MA; Jones KL; Nyhan WL; Francke U; Dixson B
J Pediatr; 1976 Apr; 88(4 Pt 1):589-91. PubMed ID: 1255317
[No Abstract] [Full Text] [Related]
10. A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.
Vinkler C; Leshinsky-Silver E; Michelson M; Haas D; Lerman-Sagie T; Lev D
Eur J Med Genet; 2014; 57(6):288-92. PubMed ID: 24709618
[TBL] [Abstract][Full Text] [Related]
11. Costello syndrome: report and review.
van Eeghen AM; van Gelderen I; Hennekam RC
Am J Med Genet; 1999 Jan; 82(2):187-93. PubMed ID: 9934987
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.
Chen CP; Lin SP; Chen MR; Su JW; Chern SR; Chen YJ; Lee MS; Wang W
Genet Couns; 2012; 23(2):195-200. PubMed ID: 22876577
[TBL] [Abstract][Full Text] [Related]
13. Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG; Lonardo F; Ceccarini C; Cesarano C; Digilio MC; Magliozzi M; Rogaia D; Mencarelli A; Leoni C; Piscopo C; Imperatore V; Falco MT; Fontana P; Nardone AM; Novelli A; Troiani S; Seri M; Prontera P
Am J Med Genet A; 2021 Apr; 185(4):1204-1210. PubMed ID: 33442900
[TBL] [Abstract][Full Text] [Related]
14. Facio-cardio-renal syndrome: a newly delineated recessive disorder.
Eastman JR; Bixler D
Clin Genet; 1977 Jun; 11(6):424-30. PubMed ID: 880742
[TBL] [Abstract][Full Text] [Related]
15. Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?
Panigrahi I; Phadke SR; Agarwal SS
Clin Dysmorphol; 2002 Oct; 11(4):289-92. PubMed ID: 12401996
[TBL] [Abstract][Full Text] [Related]
16. Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".
Neuhäuser G; Kaveggia EG; Opitz JM
Eur J Pediatr; 1976 Aug; 123(1):15-28. PubMed ID: 954768
[TBL] [Abstract][Full Text] [Related]
17. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
Svensson AM; Curry CJ; South ST; Whitby H; Maxwell TM; Aston E; Fisher J; Carmack CE; Scheffer A; Abu-Shamsieh A; Brothman AR
Am J Med Genet A; 2007 Jun; 143A(12):1348-53. PubMed ID: 17506097
[TBL] [Abstract][Full Text] [Related]
18. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.
Cantú JM; Hernández A; Ramírez J; Bernal M; Rubio G; Urrusti J; Franco-Vázquez S
Birth Defects Orig Artic Ser; 1975; 11(5):91-8. PubMed ID: 1218241
[TBL] [Abstract][Full Text] [Related]
19. Letter: Noonan's phenotype in an offspring of an alcoholic mother.
Hall BD; Orenstein WA
Lancet; 1974 Apr; 1(7859):680-1. PubMed ID: 4132346
[No Abstract] [Full Text] [Related]
20. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.
Ben-Zeev B; Hoffman C; Lev D; Watemberg N; Malinger G; Brand N; Lerman-Sagie T
J Med Genet; 2003 Aug; 40(8):e96. PubMed ID: 12920088
[No Abstract] [Full Text] [Related]
[Next] [New Search]
