Abnormal Skeletal Phenotypes

Part I. Part I

1. Skull
Alessandro Castriota-Scanderbeg

2. Thorax
Alessandro Castriota-Scanderbeg

3. Spine
Alessandro Castriota-Scanderbeg

4. Pelvis
Alessandro Castriota-Scanderbeg

5. Long Bones
Alessandro Castriota-Scanderbeg

6. Hands
Alessandro Castriota-Scanderbeg, Bruno Dallapiccola

7. Feet
Alessandro Castriota-Scanderbeg

8. Joints
Alessandro Castriota-Scanderbeg

9. Generalized Skeletal Abnormalities
Alessandro Castriota-Scanderbeg

Part II. Part II

10. Aarskog Syndrome

11. Achondrogenesis, Type IB

12. Achondrogenesis, Type II

13. Achondroplasia

14. Acrofacial Dysostosis, Nager Type

15. Angelman Syndrome

16. Apert Syndrome

17. Asphyxiating Thoracic Dysplasia

18. Atelosteogenesis

19. Bardet-Biedl Syndrome

20. Beckwith-Wiedemann Syndrome

21. C Syndrome

22. Campomelic Dysplasia

23. Carpenter Syndrome

24. Cerebro-costo-mandibular Syndrome

25. CHARGE Association

26. Chondrodysplasia Punctata, Conradi-Hünermann Type

27. Chondrodysplasia Punctata, Rhizomelic Type

28. Chondrodysplasia Punctata, Brachytelephalangic Type

29. Chondroectodermal Dysplasia

30. Chromosome 4p- Syndrome

31. Chromosome Trisomy 13 Syndrome

32. Chromosome Trisomy 18 Syndrome

33. Chromosome Trisomy 21 Syndrome

34. Cleidocranial Dysplasia

35. Cockayne Syndrome

36. Coffin-Lowry Syndrome

37. Coffin-Siris Syndrome

38. Cohen Syndrome

39. Craniometaphyseal Dysplasia, Dominant Type

40. Cri-du-chat Syndrome

41. Crouzon Syndrome

42. De Lange Syndrome

43. Diaphyseal Dysplasia

44. Diastrophic Dysplasia

45. Dubowitz Syndrome

46. Dyschondrosteosis

47. Dysosteosclerosis

48. Ectodermal Dysplasias

49. Ehlers-Danlos Syndromes

50. Enchondromatosis

51. Exostoses, Multiple

52. Fanconi Anemia

53. Focal Dermal Hypoplasia Syndrome

54. Freeman-Sheldon Syndrome

55. Frontometaphyseal Dysplasia

56. Goldenhar Syndrome

57. Hallermann-Streiff Syndrome

58. Holt-Oram Syndrome

59. Kenny-Caffey Syndrome

60. Klippel-Feil Anomaly

61. Klippel-Trenaunay-Weber Syndrome

62. Kniest Dysplasia

63. Larsen Syndrome

64. Marfan Syndrome

65. McCune-Albright Syndrome

66. Meckel Syndrome

67. Melnick-Needles Syndrome

68. Melorheostosis

69. Mental Retardation, X-Linked, Associated with FRA Xq27.3

70. Mesomelic Dwarfism, Langer Type

71. Mesomelic Dwarfism, Nievergelt Type

72. Metatropic Dysplasia

73. Multiple Epiphyseal Dysplasia

74. Nail-Patella Syndrome

75. Nevoid Basal Cell Carcinoma Syndrome

76. Noonan Syndrome

77. Opitz Syndrome

78. Oro-facio-digital Syndrome, Type I

79. Oro-facio-digital Syndrome, Type II

80. Osteogenesis Imperfecta, Type I

81. Osteogenesis Imperfecta, Type IIA

82. Osteogenesis Imperfecta, Type IIB/III

83. Osteopathia Striata with Cranial Sclerosis

84. Osteopetrosis, Infantile Type

85. Osteopetrosis, Adult Type

86. Osteopoikilosis

87. Oto-palato-digital Syndrome, Type I

88. Oto-palato-digital Syndrome, Type II

89. Pena-Shokeir Syndrome

90. Pfeiffer Syndrome

91. Poland Syndrome

92. Prader-Willi Syndrome

93. Progeria

94. Pseudoachondroplasia

95. Pyknodysostosis

96. Roberts Syndrome

97. Robin Sequence

98. Robinow Syndrome

99. Rubinstein-Taybi Syndrome

100. Saethre-Chotzen Syndrome

101. Seckel Syndrome

102. Short Rib-Polydactyly Syndrome, Type I

103. Short Rib-Polydactyly Syndrome, Type II

104. Silver-Russell Syndrome

105. Smith-Lemli-Opitz Syndrome

106. Sotos Syndrome

107. Spondyloepimetaphyseal Dysplasia, Irapa Type

108. Spondyloepimetaphyseal Dysplasia, Strudwick Type

109. Spondyloepiphyseal Dysplasia Congenita

110. Spondyloepiphyseal Dysplasia Tarda

111. Spondylometaphyseal Dysplasia, Kozlowski Type

112. Stickler Syndrome

113. Thanatophoric Dysplasia

114. Thrombocytopenia-Absent Radius Syndrome

115. Treacher-Collins Syndrome

116. Tricho-rhino-phalangeal Syndrome, Type I

117. Tricho-rhino-phalangeal Syndrome, Type II

118. Turner Syndrome

119. VATER Association

120. Williams Syndrome

Keywords: Medicine & Public Health, Imaging / Radiology, Human Genetics, Pediatrics, Orthopedics