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42. [Diastrophic dwarfism or "metaphyseal dysostosis"]. Fauchier C; Régy JM; Combe P Ann Pediatr (Paris); 1970 Dec; 17(12):876-81. PubMed ID: 4993571 [No Abstract] [Full Text] [Related]
43. Barth syndrome: clinical observations and genetic linkage studies. Christodoulou J; McInnes RR; Jay V; Wilson G; Becker LE; Lehotay DC; Platt BA; Bridge PJ; Robinson BH; Clarke JT Am J Med Genet; 1994 Apr; 50(3):255-64. PubMed ID: 8042670 [TBL] [Abstract][Full Text] [Related]
44. Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association. Sikora P; Majewski M; Kandzierski G; Zajaczkowska M; Borzecka H; Korolczuk A; Kozlowski K Nephrol Dial Transplant; 2006 Aug; 21(8):2335-6. PubMed ID: 16490740 [No Abstract] [Full Text] [Related]
45. Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings. Lin HJ; Sue GY; Berkowitz CD; Brasel JA; Lachman RS Am J Med Genet; 1995 Aug; 58(2):136-42. PubMed ID: 8533804 [TBL] [Abstract][Full Text] [Related]
46. Costello syndrome: a postnatal growth retardation syndrome with distinct phenotype. Fryns JP; Vogels A; Haegeman J; Eggermont E; van den Berghe H Genet Couns; 1994; 5(4):337-43. PubMed ID: 7888135 [TBL] [Abstract][Full Text] [Related]
47. [Ullrich-Turner syndrome in the newborn]. Colombo ML; Dogliani P; Bona G Minerva Pediatr; 1973 Oct; 25(34):1421-7. PubMed ID: 4770447 [No Abstract] [Full Text] [Related]
51. A lethal, unclassifiable form of micromelic dwarfism with posterior cleft palate, multiple cervicothoracal vertebral anomalies and iliac hypoplasia: evidence for autosomal recessive inheritance. Fryns JP; Moerman P Genet Couns; 1998; 9(1):61-2. PubMed ID: 9555592 [No Abstract] [Full Text] [Related]
52. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome. Urioste M; Visedo G; Sanchís A; Sentís C; Villa A; Ludeña P; Hortigüela JL; Martínez-Frías ML; Fernández-Piqueras J Am J Med Genet; 1994 Jan; 49(1):77-82. PubMed ID: 8172255 [TBL] [Abstract][Full Text] [Related]
53. Coffin-Lowry syndrome: clinical aspects at different ages and symptoms in female carriers. Plomp AS; De Die-Smulders CE; Meinecke P; Ypma-Verhulst JM; Lissone DA; Fryns JP Genet Couns; 1995; 6(3):259-68. PubMed ID: 8588856 [TBL] [Abstract][Full Text] [Related]
54. [A clinical case of diastrophic dwarfism]. Ludescher E Wien Klin Wochenschr; 1969 Oct; 81(41):716-9. PubMed ID: 5357361 [No Abstract] [Full Text] [Related]
55. A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect. Barrow M; Fitzsimmons JS Am J Med Genet; 1984 Jul; 18(3):431-3. PubMed ID: 6476004 [No Abstract] [Full Text] [Related]
56. [Smith-Lemli-Opitz dwarfism. Report of four cases. Review of the literature]. Cruveiller J; Msika S; Lafourcade J Ann Pediatr (Paris); 1977 Dec; 24(12):843-51. PubMed ID: 16218266 [No Abstract] [Full Text] [Related]
57. Ocular anomalies in Seckel's syndrome. Lim KH; Wong HB Aust N Z J Med; 1973 Oct; 3(5):520-2. PubMed ID: 4521434 [No Abstract] [Full Text] [Related]
58. A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. Duca D; Pană I; Ciovirnache M; Simionesu L; Ispas I; Maxililian C Am J Med Genet; 1981; 8(2):173-80. PubMed ID: 7282772 [TBL] [Abstract][Full Text] [Related]
59. Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. Le Merrer M; Brauner R; Maroteaux P J Med Genet; 1991 Mar; 28(3):186-91. PubMed ID: 2051454 [TBL] [Abstract][Full Text] [Related]