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22. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Cunniff C; Jones KL; Saal HM; Stern HJ Pediatrics; 1990 Apr; 85(4):499-504. PubMed ID: 2314962 [TBL] [Abstract][Full Text] [Related]
23. Skin mastocytosis, hearing loss and mental retardation. Hennekam RC; Beemer FA Clin Dysmorphol; 1992 Apr; 1(2):85-8. PubMed ID: 1345517 [TBL] [Abstract][Full Text] [Related]
24. [Association of early-onset nephrotic syndrome and microcephaly. Apropos of 4 cases in 2 families]. Gaudelus J; Leverger G; Rault G; Nathanson M; Giorno JL; Boccon-Gibod L; Levy M; Broyer M Arch Fr Pediatr; 1984; 41(6):409-15. PubMed ID: 6487044 [TBL] [Abstract][Full Text] [Related]
27. Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs. da-Silva EO Am J Med Genet; 1988 Apr; 29(4):837-43. PubMed ID: 3400727 [TBL] [Abstract][Full Text] [Related]
28. [Coffin-Lowry syndrome. Description of a clinical case]. Venura A; Ferrari P; Benci E; Grando A Pediatr Med Chir; 1988; 10(4):449-50. PubMed ID: 3231552 [TBL] [Abstract][Full Text] [Related]
29. [A new sublethal syndrome with multiple malformations associating diaphragmatic hernia, distal digital hypoplasia, and craniofacial anomalies. The "Fryns syndrome"]. Fryns JP; Moerman P; Van den Berghe H; Aymé S J Genet Hum; 1989 Sep; 37(3):203-5. PubMed ID: 2625623 [TBL] [Abstract][Full Text] [Related]
30. Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. Verloes A; Dodinval P; Beco L; Bonnivert J; Lambotte C Am J Med Genet; 1990 Sep; 37(1):119-23. PubMed ID: 2240028 [TBL] [Abstract][Full Text] [Related]
31. Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. Opitz JM; Putnam AR; Comstock JM; Chin S; Byrne JL; Kennedy A; Frikke MJ; Bernard C; Albrecht S; Der Kaloustian V; Szakacs JG Fetal Pediatr Pathol; 2006; 25(4):211-31. PubMed ID: 17162528 [TBL] [Abstract][Full Text] [Related]
32. [Smith-Lemli-Opitz syndrome in a female newborn infant]. Pietrzyk JJ; Majerska B; Pieniazek M Pediatr Pol; 1983 Jul; 58(7):663-6. PubMed ID: 6657340 [No Abstract] [Full Text] [Related]
34. Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. Santos H; Cordeiro I; Medeira A; Mendonça E; Antunes NL; Rosa FC Genet Couns; 1994; 5(2):187-9. PubMed ID: 7917131 [TBL] [Abstract][Full Text] [Related]
35. Smith-Fineman-Myers syndrome: report of a third case. Stephenson LD; Johnson JP Am J Med Genet; 1985 Oct; 22(2):301-4. PubMed ID: 4050861 [TBL] [Abstract][Full Text] [Related]
36. [A typical case of Smith-Lemli-Opitz syndrome: nosologic problems and overlapping syndromes]. Camera G Pathologica; 1990; 82(1081):539-42. PubMed ID: 1964208 [TBL] [Abstract][Full Text] [Related]
37. Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. Nazer H; Gunasekaran TS; Sakati NA; Nyhan WL Am J Med Genet; 1990 Dec; 37(4):516-8. PubMed ID: 2260598 [TBL] [Abstract][Full Text] [Related]
38. [Diagnosis of Edwards syndrome in newborns]. Dunin-Wasowicz D; Krajewska-Walasek M; Rowecka-Trzebicka K; Gurkau-Malecha M; Gutkowska A; Chrzanowska K Pediatr Pol; 1995 Oct; 70(10):865-74. PubMed ID: 8649934 [TBL] [Abstract][Full Text] [Related]
39. The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. Hunter AG; Woerner SJ; Montalvo-Hicks LD; Fowlow SB; Haslam RH; Metcalf PJ; Lowry RB Am J Med Genet; 1979; 3(3):269-79. PubMed ID: 484596 [TBL] [Abstract][Full Text] [Related]
40. A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome? Wieczorek D; Gillessen-Kaesbach G; Passarge E Genet Couns; 1995; 6(4):297-302. PubMed ID: 8775415 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]