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The Bedside Dysmorphologist Second Edition

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  • Over 300 images of unusual clinical signs with interpretation of their significance and diagnostic meaning
  • Guidance on appropriate management and investigation
  • Additional images included as supplementary material on Oxford Medicine Online

The Bedside Dysmorphologist is a thoughtful clinical guide to common—and often quite subtle—congenital malformations in clinical exam. Organized by area of the body, each section provides the user with a concise, illustrated roadmap for assessment and differential diagnosis of highly nuanced elements of dysmorphology. Narrated by a world-class clinical geneticist and enriched with a library of original photos, it provides a safety net for physicians encountering abnormalities in physical exam.

No other book in the market sets out to assist the pediatrician and other non-geneticists in how to interpret the clinical signs in syndromology and to lead the clinician to sensible conclusions, both in terms of clinical management and in terms of initiating of appropriate investigation. The Bedside Dysmorphologist distills a lifetime of clinical experience, nuance, and variation into a manageable volume, one that will instill confidence in clinicians and guide them through this arcane area of medicine.

Chapter 1: The Skull
1.1 Plagiocephaly
1.2 Metopic Ridge
1.3 Scalp Defects
1.4 Macrocephaly
1.5 Microcephaly
1.6 Frontal Hairline Variants - High Hairline and Frontal Upsweep
1.7 Frontal Hairline Variants - Low Hairline and Widow's Peak
1.8 Low Posterior Hairline
1.9 Anencephaly
1.10 Abnormal Anterior Fontanelle
Chapter 2: The Face
2.1 Hypertelorism
2.2 Hypotelorism
2.3 Abnormal Nasal Bridge
2.4 Abnormal Alae Nasi and Nasal Tip
2.5 Prominent Nose
2.6 Abnormal Nasal Columella and Nares
2.7 Abnormal Nasal Septum
2.8 Abnormal Nasal Appendages
2.9 Synophrys
2.10 Midfacial Hypoplasia
2.11 Micrognathia
2.12 Facial Asymmetry
2.13 Myopathic Facies
2.14 Abnormalities of the Philtrum
Chapter 3: The Eye and Related Structures
3.1 Epicanthus
3.2 Deep Set Eyes
3.3 Almond Shaped Eye
3.4 Blepharophimosis
3.5 Palpebral Fissure Slant
3.6 Proptosis
3.7 Ptosis of the Eyelid
3.8 Corneal Clouding
3.9 Ectopic Pupil
3.10 Blue Sclerae
3.11 Iris Coloboma
3.12 Anophthalmia/Microphthalmia
3.13 Iris Variants
3.14 Ectropion of the Lower Eyelid
3.15 Eyebrow Variants
3.16 Eyelash Variants
3.17 Epibulbar Dermoid
Chapter 4: The Ear
4.1 Low-Set Ears
4.2 Posteriorly Rotated Ears
4.3 Auricular Pits
4.4 Microtia
4.5 External Ear Variants
4.6 Ear Lobe Variants
4.7 External Auditory Canal Atresia or Stenosis
4.8 Auricular Tags
Chapter 5: The Mouth and Oral Cavity
5.1 Microstomia.
5.2 Upper Lip Clefts
5.3 Lip Pits
5.4 Thick and Thin Upper Lips
5.5 Lip and Oral Mucosa Pigmentation
5.6 Macroglossia
5.7 Accessory Oral Frenula
5.8 Isolated Cleft Palate
5.9 Persistent drooling
5.10 Gum Hyperplasia
Chapter 6: The Neck
6.1 Neck Webbing
6.2 Short Neck
6.3 Goitre
6.4 Neck Sinuses/Fistulae/Pits/Cysts.
6.5 Occipital Horns
Chapter 7: The Chest
7.1 Poland Anomaly
7.2 Accessory Nipples
7.3 Athelia/Hypothelia (absent or hypoplastric nipples)
7.4 Gynaecomastia
7.5 Sloping shoulders
7.6 Small Thorax
7.7 Pectus Excavatum and Carninatum
7.8 Scoliosis
Chapter 8: The Abdomen and Perineum
8.1 Minor Anomalies of the Umbilicus
8.2 Umbilical Hernia/Omphalocoele
8.3 Inguinal Hernia
8.4 Small Penis/Micropenis
8.5- Ambiguous Genitalia
8.6 Hypospadias
8.7 Shawl Scrotum and Peno-Scrotal Transposition.
8.8 Anal Atresia, Anal Stenosis and Anterior Displacement of the Anus
8.9 Caudal Appendage
Chapter 9: The Hands
9.1 Postaxial polydactyly
9.2 Pre-axial polydactyly/Thumb duplication
9.3 Syndactyly of the Fingers
9.4 Clinodactyly of the Fingers
9.5 Arachnodactyly of the Fingers
9.6 Camptodactyly
9.7 Brachydactyly
9.8 Tapering Fingers
9.9 Puffy Fingers
9.10 Overlapping Fingers
9.11 Ectrodactyly
9.12 Broad Thumbs
9.13 Small and Hypoplastic Thumbs
9.14 Long and Triphalangeal Thumbs
9.15 Trident Hand
9.16 Fetal Finger Pads
9.17 Ulnar Ray Defects
9.18 Palmar Crease Patterns of Special Diagnostic Significance
Chapter 10: The Feet
10.1 Preaxial Polydactyly
10.2 Broad Halluces
10.3 Post-axial Polydactyly
10.4 Syndactyly Toes 2/3
10.5 Hypoplastic and Missing Toes
10.6 Longitudinal Plantar Creases
10.7 Foot Oedema
10.8 Short 4th and 5th Metatarsals
10.9 Plantar Fat Pads
Chapter 11: The Limbs
11.1 Limb Asymmetry
11.2 Symmetric Short Limbs
11.3 Limb Reduction Defects
11.4 Localised Lumps on the Limb
11.5 Arthrogryposis Congenita
11.6 Joint Enlargement
11.7 Generalised Joint Hypermobility
11.8 Small or Absent Patella
11.9 Pseudoarthrosis
11.10 Madelung Deformity
11.11 Hairy Elbows (Hypertrichosis Cubiti)
Chapter 12: The Nails, Hair, and Skin
12.1 Absent or Hypoplastic Nails.
12.2 "Tale of a Nail" sign
12.3 Longitudinal Splitting of the Nails
12.4 Short Nails
12.5 Temporal Balding
12.6 Sparse Hair/Alopecia
12.7 Poliosis
12.8 Café-au-Lait Patches
12.9 Acanthosis Nigricans
12.10 Diffuse Hypopigmented Streaky Lesions
12.11 Piebaldism
12.12 Cutis Marmorata
12.13 Capillary Haemangioma
12.14 Telangiectasia
12.15 Ichthyosis
12.16 Excess Skin
12.17 Lentigenes
12.18 Nevus Flammeus Neonatorum


William Reardon, Consultant Clinical Geneticist, Our Lady's Hospital for Sick Children

A career geneticist, William Reardon has authored an excess of 250 papers in research journals, multiple chapters in textbooks, and two books. Dr. Reardon is widely experienced as a Medical Expert Witness and much in demand as an examiner and educationalist, as well as in clinical practice.


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Rok wydania 2015
Format 210 x 140
Autor William Reardon
Wydanie 1
Liczba stron 408
ISBN 9780199970889
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