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2. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Yang SS; Lin CS; Al Saadi A; Nangia BS; Bernstein J Am J Med Genet; 1980; 7(2):205-13. PubMed ID: 7468648 [TBL] [Abstract][Full Text] [Related]
3. [Short rib-polydactyly with multiple visceral malformations (author's transl)]. Rodríguez JI; Gamallo C; Cuevas J; Pastor I; Collado F An Esp Pediatr; 1980 Sep; 13(9):805-10. PubMed ID: 7193424 [TBL] [Abstract][Full Text] [Related]
4. Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene. Chen CP; Chern SR; Chang TY; Su YN; Chen YY; Su JW; Wang W Taiwan J Obstet Gynecol; 2012 Jun; 51(2):266-70. PubMed ID: 22795106 [TBL] [Abstract][Full Text] [Related]
5. Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome). Kumru P; Aka N; Köse G; Vural ZT; Peker O; Kayserili H Fetal Diagn Ther; 2005; 20(5):410-4. PubMed ID: 16113563 [TBL] [Abstract][Full Text] [Related]
6. [Short rib-polydactyly syndrome of the Saldino-Noonan type in 2 siblings]. Rupprecht E; Gurski A Helv Paediatr Acta; 1982 May; 37(2):161-9. PubMed ID: 7096117 [TBL] [Abstract][Full Text] [Related]
7. The Mckusick-Kaufman syndrome: report of a case with some associations. Kotiloğlu E; Kaya H; Güney I; Balci S Turk J Pediatr; 2002; 44(2):176-9. PubMed ID: 12026212 [TBL] [Abstract][Full Text] [Related]
8. Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child. Moerman P; Fryns JP Am J Med Genet; 1996 Jun; 63(3):479-81. PubMed ID: 8737656 [TBL] [Abstract][Full Text] [Related]
9. [Multisynostotic osterodysgenesis and the problem of genetic counseling in newly-identified syndromes (author's transl)]. Delozier CD; Engel E J Genet Hum; 1981 Sep; 29(3):365-77. PubMed ID: 7334357 [TBL] [Abstract][Full Text] [Related]
10. [Prenatal diagnosis of skeletal dysplasia: case report of a fetus with multiple anomalies]. Novakov Mikić A; Stojić S; Konstantinidis G; Ristivojević A; Krnojelac D Med Pregl; 2000; 53(3-4):197-201. PubMed ID: 10965689 [TBL] [Abstract][Full Text] [Related]
11. Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating. George E; DeSilva S; Lieber E; Raziuddin K; Gudavalli M J Perinat Med; 2000; 28(6):425-7. PubMed ID: 11155425 [TBL] [Abstract][Full Text] [Related]
12. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. Schinzel A Helv Paediatr Acta; 1980 Jul; 35(3):243-51. PubMed ID: 6250998 [TBL] [Abstract][Full Text] [Related]
13. [Ocular changes in a case of ectodermal dysplasia (author's transl)]. Sbaiti A Klin Monbl Augenheilkd; 1974 Feb; 164(2):267-70. PubMed ID: 4858375 [No Abstract] [Full Text] [Related]
14. Meckel-Gruber syndrome. A lethal combination of abnormalities. Coard KC; Escoffery CT West Indian Med J; 1990 Mar; 39(1):52-6. PubMed ID: 2333699 [TBL] [Abstract][Full Text] [Related]
15. Short rib-polydactyly syndrome, Majewski type. Chen H; Yang SS; Gonzalez E; Fowler M; Al Saadi A Am J Med Genet; 1980; 7(2):215-22. PubMed ID: 7468649 [TBL] [Abstract][Full Text] [Related]
16. [Dysmaturity as symptom of the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome]. Porcelijn L; Maat-Kievit JA; van Haeringen A Tijdschr Kindergeneeskd; 1993 Jun; 61(3):96-9. PubMed ID: 8211943 [TBL] [Abstract][Full Text] [Related]
18. [Aplasia of the premolars as a leading symptom of ectodermal dysplasia]. Weyers H Dtsch Zahnarztl Z; 1980 Aug; 35(8):836-40. PubMed ID: 6935039 [TBL] [Abstract][Full Text] [Related]
19. [Lethal chondrodysplasia with short ribs, Majewski type. Diagnosis in utero]. Nivelon-Chevallier A; Halfon D; Mabille JP Pediatrie; 1982 Sep; 37(6):453-9. PubMed ID: 7155726 [No Abstract] [Full Text] [Related]
20. Short rib-polydactyly syndrome (Majewski type). Raghavan KR; Ambani LM; Patel DN; Khare DA Indian Pediatr; 1983 Nov; 20(11):870-3. PubMed ID: 6676296 [No Abstract] [Full Text] [Related] [Next] [New Search]