Abnormal Skeletal Phenotypes focuses on the radiographic changes of malformation syndromes and skeletal dysplasias.
Abnormal Skeletal Phenotypes is structured such that the reader can identify the radiographic changes and relate them to specific disease entities.
The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias.
The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their:
- incidence
- anatomic location
- diagnostic relevance
- pathogenesis
- pattern of inheritance
The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning:
- symptoms
- genetics
- causes
- radiographic appearance
- major differential diagnosis
Contents
1. Skull
Abnormalities of the Shape and/or Size
of the Skull
- Microcephaly
- Macrocephaly
- Craniosynostosis
Abnormalities of Cranial Development and Ossification
- Calvarial Ossification Defects
- Delayed Closure and/or Incomplete
- Ossification of Sutures and Fontanels
- Wormian Bones
- Skull Thickening
Abnormalities of the Skull Base
- Abnormalities of the Sella Turcica
- Abnormalities of the Foramen Magnum
- Basilar Impression
Abnormalities of the Facial Bones
and Sinonasal Cavities
- Abnormalities of Orbital Size
- Orbital Hypotelorism
- Orbital Hypertelorism
- Choanal Atresia
- Facial Clefts
- Small Sinuses
Abnormalities of the Mandible
Intracranial Calcification
2. Thorax
Abnormal Shape or Size of the Chest
- Small Thorax
- Pectus Excavatum
- Pectus Carinatum
Rib Abnormalities
- Short Ribs
- Eleven Pairs of Ribs
- Supernumerary Ribs
- Slender, Thin, or Twisted Ribs
- Wide or Thickened Ribs
- Rib Notching
- Defects in Segmentation
- Flared or Cupped Ribs
- Rib Gap
Clavicular Abnormalities
- Aplasia and Hypoplasia
- Slender Clavicles
- Wide or Thickened Clavicles
- Clavicles with Lateral Hooks
Scapular Abnormalities
Sternal Abnormalities
3. Spine
Abnormal Shape or Size of Vertebrae
- Tall Vertebrae
- Beaked Vertebrae
- Scalloping of the Vertebral Body
- Platyspondyly
- Hemivertebrae
- Block Vertebrae
- Coronal Cleft Vertebrae
- Absent or Minimal Vertebral Ossification
- Odontoid Hypoplasia/Aplasia
- Sacral Agenesis
Defects of Spinal Alignment
Abnormalities of the Spinal Canal
- Narrow Spinal Canal
- Wide Spinal Canal
Atlanto-axial Instability
Disc Calcification
4. Pelvis
Abnormal Shape or Size of Ilia, Ischia,
and Pubic Bones
- Small,Hypoplastic Pelvis
- Flared Iliac Wings
- Small Sciatic Notches
- Iliac Crest Serration
- Wide Interpubic Distance
Acetabular Abnormalities
- Small Acetabular Angle
- Protrusio Acetabuli
Abnormalities of the Femoral Head
and Neck
- Slipped Capital Femoral Epiphysis
- Coxa Vara
- Coxa Valga
- Early Ossification of the Femoral Head
- Hypoplasia/Aplasia,
- Irregularities, Fragmentation
of the Femoral Head
- Hip Subluxation and Dislocation
5. Long Bones
Abnormalities of the Shape
and Contour of the Long Bones
- Broad Tubular Bones
- Slender Tubular Bones
- Bowed Tubular Bones
- Cortical Thickening
- Cortical Thinning
Limb Shortening
- Rhizomelic Limb Shortening
- Mesomelic Limb Shortening
Abnormalities of the Long Bones
in the Upper Extremities
- Radioulnar Synostosis
- Humeroradial and Humeroulnar Synostosis
- Madelung Deformity
Abnormalities of the Long Bones in the Lower Extremities
- Genu Varum
- Genu Valgum
- Proximal Femoral Focal Dysplasia
- Tibial Bowing
- Tibial Hemimelia
- Fibular Hemimelia
- Patellar Hypoplasia,Aplasia, Dysplasia,
and Dislocation
Epiphyseal Abnormalities
- Stippled Epiphyses
- Hypoplastic, Dysplastic
- Dysgenetic Epiphyses
- Large Epiphyses
- Aseptic Necrosis
Metaphyseal Abnormalities
- Broad Metaphyses
- Metaphyseal Cupping
- Metaphyseal Spurs
- Metaphyseal Bands
- Irregular Metaphyses
6. Hands
Shortening or Absence of Components
of the Hands
- Brachytelephalangy
- Brachymesophalangy
- Brachyproxiphalangy
- Brachymetacarpalia
- Radial Ray Deficiency
- Ulnar-Ray Deficiency
- Central Ray Deficiency
- Terminal Transverse Defect
Other Anomalies of the Hand
- Preaxial Polydactyly
- Postaxial Polydactyly
- Syndactyly
- Symphalangism
- Clinodactyly
- Camptodactyly
- Angel-shaped Phalanges
- Macrodactyly
- Arachnodactyly
Epiphyseal Abnormalities
- Cone-shaped Epiphyses
- Pseudoepiphyses
- Ivory Epiphyses
Carpal Abnormalities
- Carpal Angle Abnormalities
- Supernumerary Carpal Bones
- Carpal Synostosis
Thumb Abnormalities
- Thumb Hypoplasia/Aplasia
- Triphalangeal Thumb
- Thumb Polydactyly
Acro-osteolyses
- Acro-osteolysis, Phalangeal Type
- Acro-osteolysis, Carpotarsal Type
7. Feet
Clubfoot and Other Foot Deformities
- Clubfoot/Metatarsus Adductus
- Vertical Talus
Tarsal Abnormalities
- Tarsal Synostosis
- Multiple Calcaneal Ossification Centers
8. Joints
Abnormalities of Joint Motion
- Joint Contracture, Joint Stiffness
- Ankylosis
- Joint Laxity, Joint Hypermobility
Abnormalities of Joint Position
- Joint Subluxation and Dislocation
Premature Degenerative Joint Disease
9. Generalized Skeletal Abnormalities
Osteoporosis
Osteosclerosis,Hyperostosis
Multiple Fractures, Bone Fragility
Exostoses, Spurs,Horns
Multiple Radiolucent Defects, Lytic Lesions
Osteolyses
Advanced Bone Age
Delayed Bone Age
Soft Tissue Calcification and Ossification
Asymmetry (Hemihypertrophy,Hemiatrophy)
Dwarfism with Neonatal Death
Index
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