The Bedside Dysmorphologist

by William Reardon

Overview

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.

Product Details

ISBN-13:	9780190256838
Publisher:	Oxford University Press
Publication date:	10/01/2015
Sold by:	Barnes & Noble
Format:	eBook
Pages:	368
File size:	117 MB
Note:	This product may take a few minutes to download.

About the Author

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. For further, see www.williereardon.com.

Table of Contents

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 Caf?-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

Editorial Reviews

"Reading the book feels like having a wizened attending standing over your shoulder. Reardon writes in a conversational style and gives concise discussions with multiple teaching points on each specific dysmorphic feature. An excellent book." -American Journal of Medical Genetics

From the Publisher

Reviewer: Luis F Escobar, MD., MS. (Peyton Manning Children's Hospital)
Description: This is a pocket-sized clinical guide to dysmorphologic symptoms that establishes a correlation between clinical observations and their presentation in common clinical disorders. It is descriptive in nature and provides excellent photographic documentation of clinical features commonly seen by dysmorphologists.
Purpose: The author wants to help clinicians understand the significance of human variation in relation to disease. He summarizes the classic clinical signs in human malformation syndromes and their diagnostic significance. He has done an excellent job of providing a consultation pocket guide that can be carried by clinicians in their daily practice.
Audience: This is an excellent tool for dysmorphologists. Although the author directs this work at early practitioners of genetics, this is a modest but remarkable tool for experienced clinical geneticists as well. Primary care providers may find the information helpful to differentiate between normal features and clinical signs of underlying syndromic disorders. Medical students and physicians in training also would find it useful.
Features: It is organized in anatomic order from head to toe and it describes the most common and obvious observational clinical patterns of dysmorphology. Each entry includes a discussion of the clinical significance associated with pathology or normal variation of the human form. All entries are well documented and include excellent photographic examples.
Assessment: Although there are multiple clinical genetics manuals, Dr. Reardon's work sets itself apart because of its portability. This is an accessible pocket manual that avoids complicated algorithms and is easy to understand. It is a unique contribution with high practical utility for daily use by all clinicians involved in the field of dysmorphology.

Doody's Review Service