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3. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? McPherson E; Clemens M Am J Med Genet; 1996 Mar; 62(1):58-60. PubMed ID: 8779326 [TBL] [Abstract][Full Text] [Related]
4. Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations. Orstavik KH; Bechensteen AG; Fugelseth D; Orderud W Am J Med Genet; 1998 Jan; 75(3):300-3. PubMed ID: 9475602 [TBL] [Abstract][Full Text] [Related]
5. New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies. Stevens CA; Lachman RS Am J Med Genet A; 2010 Aug; 152A(8):1915-8. PubMed ID: 20602491 [TBL] [Abstract][Full Text] [Related]
6. Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome. García-Ortiz JE; Castañeda-Cisneros G; López-Cardona MG; Sánchez-Corona J; Patiño-García B; García-González CL; Nazará Z; Dávalos-Rodríguez N; Rodríguez LX; García-Cruz D Am J Med Genet A; 2006 Jun; 140(11):1245-9. PubMed ID: 16688750 [No Abstract] [Full Text] [Related]
7. Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome. Fuhrmann W; Fuhrmann-Rieger A; de Sousa F Eur J Pediatr; 1980 Mar; 133(2):123-9. PubMed ID: 7363910 [TBL] [Abstract][Full Text] [Related]
8. Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity. Ramos FJ; Kaplan BS; Bellah RD; Zackai EH; Kaplan P Am J Med Genet; 1998 Aug; 78(5):474-81. PubMed ID: 9714016 [TBL] [Abstract][Full Text] [Related]
10. Aarskog syndrome: significance for the surgeon. Andrassy RJ; Murthy S; Woolley MM J Pediatr Surg; 1979 Aug; 14(4):462-4. PubMed ID: 39985 [TBL] [Abstract][Full Text] [Related]
11. Limb deficiency syndrome in half-sibs. Hecht JT; Scott CI Clin Genet; 1981 Dec; 20(6):432-7. PubMed ID: 7337959 [No Abstract] [Full Text] [Related]
12. Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? Coman DJ; White SM; Amor DJ Am J Med Genet A; 2007 Sep; 143A(18):2085-8. PubMed ID: 17702017 [TBL] [Abstract][Full Text] [Related]
13. Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? Exner GU Eur J Pediatr; 1988 Jun; 147(5):544-6. PubMed ID: 3409932 [TBL] [Abstract][Full Text] [Related]
14. Arteriohepatic dysplasia: phenotypic features and family studies. Mueller RF; Pagon RA; Pepin MG; Haas JE; Kawabori I; Stevenson JG; Stephan MJ; Blumhagen JD; Christie DL Clin Genet; 1984 Apr; 25(4):323-31. PubMed ID: 6424981 [TBL] [Abstract][Full Text] [Related]
15. Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome. Pfeiffer RA; Stöss H; Voight HJ; Wündisch GF Am J Med Genet; 1988 Apr; 29(4):901-8. PubMed ID: 3400735 [TBL] [Abstract][Full Text] [Related]
17. A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation: a new syndrome? Nishimura G; Nagai T J Hum Genet; 1998; 43(1):65-8. PubMed ID: 9610002 [TBL] [Abstract][Full Text] [Related]
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19. Clinical characteristics of CHARGE syndrome. Ahn BS; Oh SY Korean J Ophthalmol; 1998 Dec; 12(2):130-4. PubMed ID: 10188375 [TBL] [Abstract][Full Text] [Related]
20. ["Cat's eye" phenotype in a subject with normal karyotype]. Balsamo V; Giuffré L; Liotta A; Noto M Pediatria (Napoli); 1975 Mar; 83(1):20-30. PubMed ID: 817256 [No Abstract] [Full Text] [Related] [Next] [New Search]