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5. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome. Lindenthal B; Repgen R; Emons D; Lentze MJ; von Bergmann K; Lütjohann D Klin Padiatr; 2004; 216(2):67-9. PubMed ID: 15106076 [TBL] [Abstract][Full Text] [Related]
6. [Rare form of multiple epiphyseal dysplasia in siblings]. Barylak A; Makowska J; Piatkowska E Chir Narzadow Ruchu Ortop Pol; 1974; 39(5):659-65. PubMed ID: 4419053 [No Abstract] [Full Text] [Related]
7. [Dysostosis enchondralis polyepiphysaria in 2 pairs of sisters from different families]. Zielska-Rams M Reumatologia; 1976; 14(3):281-8. PubMed ID: 824701 [No Abstract] [Full Text] [Related]
8. [Regarding a case of chondro-osteodystrophy of growth, of Morquio-Brailsford type]. Morisi M; Terragni R Arch Ortop; 1967; 80(5):343-9. PubMed ID: 5609545 [No Abstract] [Full Text] [Related]
9. [Noonan syndrome in the differential diagnosis of Turner syndrome]. Vergesslich KA; Schlemmer M; Wimmer M Padiatr Padol; 1980; 15(3):195-203. PubMed ID: 7413223 [TBL] [Abstract][Full Text] [Related]
10. [Case of chondroangiopathia calcarea seu punctata]. Staniczek J; Grabowska H Pol Tyg Lek; 1972 Dec; 27(51):2028-9. PubMed ID: 4653718 [No Abstract] [Full Text] [Related]
11. [Rhizomelic type of chondrodysplasia punctata in 2 sisters. Evidence for hereditary transmission of a recessive autosomic type]. Fabris C; Licata D; Martano C; Silengo M; Franceschini P Minerva Pediatr; 1981 Jan; 33(2):81-5. PubMed ID: 7242481 [No Abstract] [Full Text] [Related]
12. [Description of a case of the Conradi-Hunermann syndrome (congenital calcifying dystrophy)]. Verrengia D; Coppola V; Lilli C; Gatta T; Rossi R; Scozia P Minerva Pediatr; 1982 May; 34(9):421-6. PubMed ID: 7121440 [No Abstract] [Full Text] [Related]
13. Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type. Menten B; Buysse K; Vandesompele J; De Smet E; De Paepe A; Speleman F; Mortier G Eur J Med Genet; 2005; 48(3):301-9. PubMed ID: 16179225 [TBL] [Abstract][Full Text] [Related]
14. [Diagnosis and some problems in the treatment of epiphysial dysplasia]. Novikov NV; Vasil'ev NA Ortop Travmatol Protez; 1974 Jul; (7):26-31. PubMed ID: 4437903 [No Abstract] [Full Text] [Related]
15. An anthropometric study of cases with Turner syndrome and XYY. Higurashi M; Iijima K; Ikeda Y; Egi S; Ohzeki T Birth Defects Orig Artic Ser; 1982; 18(4):155-67. PubMed ID: 7159716 [TBL] [Abstract][Full Text] [Related]
16. [Concerning the little observed dysplasia in mongolism (Langdon Down)]. Pfeiffer F Nervenarzt; 1967 Apr; 38(4):177-80. PubMed ID: 4226784 [No Abstract] [Full Text] [Related]
17. [Turner's phenotype and diagnosis of Noonan's syndrome]. Latini G; Berardi R Pediatr Med Chir; 1982; 4(5):535-8. PubMed ID: 6927352 [TBL] [Abstract][Full Text] [Related]