Medical Science Book from C.H.I.P.S.

Abnormal Skeletal Phenotypes
From Simple Signs to Complex Diagnosis
by A. Castriota-Scanderbeg

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


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

  • Micrognathia
  • Prognathism

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

  • Scoliosis and Kyphosis

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-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
Advanced Bone Age
Delayed Bone Age
Soft Tissue Calcification and Ossification
Asymmetry (Hemihypertrophy,Hemiatrophy)
Dwarfism with Neonatal Death


click here to see books of related interest


Abnormal Skeletal Phenotypes
From Simple Signs to Complex Diagnosis
by A. Castriota-Scanderbeg

2005 • 962 pages • $438.00 + shipping
Texas residents please add 6.75 % sales tax

Go to Top of Page

copyright © 1997-2011 Culinary and Hospitality Industry Publications Services