The Bedside Dysmorphologist

Paperback | October 14, 2015

byWilliam Reardon

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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 highlynuanced 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. TheBedside 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.

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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 highlynuanced elements of dysmorphology. Narrated by a ...

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.

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Format:PaperbackDimensions:432 pages, 8.25 × 5.5 × 0.68 inPublished:October 14, 2015Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199970882

ISBN - 13:9780199970889

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Table of Contents

1. The Skull1.1 Plagiocephaly1.2 Metopic Ridge1.3 Scalp Defects1.4 Macrocephaly1.5 Microcephaly1.6 Frontal Hairline Variants - High Hairline and Frontal Upsweep1.7 Frontal Hairline Variants - Low Hairline and Widow's Peak1.8 Low Posterior Hairline1.9 Anencephaly1.10 Abnormal Anterior Fontanelle2. The Face2.1 Hypertelorism2.2 Hypotelorism2.3 Abnormal Nasal Bridge2.4 Abnormal Alae Nasi and Nasal Tip2.5 Prominent Nose2.6 Abnormal Nasal Columella and Nares2.7 Abnormal Nasal Septum2.8 Abnormal Nasal Appendages2.9 Synophrys2.10 Midfacial Hypoplasia2.11 Micrognathia2.12 Facial Asymmetry2.13 Myopathic Facies2.14 Abnormalities of the Philtrum3. The Eye and Related Structures3.1 Epicanthus3.2 Deep Set Eyes3.3 Almond Shaped Eye3.4 Blepharophimosis3.5 Palpebral Fissure Slant3.6 Proptosis3.7 Ptosis of the Eyelid3.8 Corneal Clouding3.9 Ectopic Pupil3.10 Blue Sclerae3.11 Iris Coloboma3.12 Anophthalmia/Microphthalmia3.13 Iris Variants3.14 Ectropion of the Lower Eyelid3.15 Eyebrow Variants3.16 Eyelash Variants3.17 Epibulbar Dermoid4. The Ear4.1 Low-Set Ears4.2 Posteriorly Rotated Ears4.3 Auricular Pits4.4 Microtia4.5 External Ear Variants4.6 Ear Lobe Variants4.7 External Auditory Canal Atresia or Stenosis4.8 Auricular Tags5. The Mouth and Oral Cavity5.1 Microstomia.5.2 Upper Lip Clefts5.3 Lip Pits5.4 Thick and Thin Upper Lips5.5 Lip and Oral Mucosa Pigmentation5.6 Macroglossia5.7 Accessory Oral Frenula5.8 Isolated Cleft Palate5.9 Persistent drooling5.10 Gum Hyperplasia6. The Neck6.1 Neck Webbing6.2 Short Neck6.3 Goitre6.4 Neck Sinuses/Fistulae/Pits/Cysts.6.5 Occipital Horns7. The Chest7.1 Poland Anomaly7.2 Accessory Nipples7.3 Athelia/Hypothelia (absent or hypoplastric nipples)7.4 Gynaecomastia7.5 Sloping shoulders7.6 Small Thorax7.7 Pectus Excavatum and Carninatum7.8 Scoliosis8. The Abdomen and Perineum8.1 Minor Anomalies of the Umbilicus8.2 Umbilical Hernia/Omphalocoele8.3 Inguinal Hernia8.4 Small Penis/Micropenis8.5- Ambiguous Genitalia8.6 Hypospadias8.7 Shawl Scrotum and Peno-Scrotal Transposition8.8 Anal Atresia, Anal Stenosis and Anterior Displacement of the Anus8.9 Caudal Appendage9. The Hands9.1 Postaxial polydactyly9.2 Pre-axial polydactyly/Thumb duplication9.3 Syndactyly of the Fingers9.4 Clinodactyly of the Fingers9.5 Arachnodactyly of the Fingers9.6 Camptodactyly9.7 Brachydactyly9.8 Tapering Fingers9.9 Puffy Fingers9.10 Overlapping Fingers9.11 Ectrodactyly9.12 Broad Thumbs9.13 Small and Hypoplastic Thumbs9.14 Long and Triphalangeal Thumbs9.15 Trident Hand9.16 Fetal Finger Pads9.17 Ulnar Ray Defects9.18 Palmar Crease Patterns of Special Diagnostic Significance10. The Feet10.1 Preaxial Polydactyly10.2 Broad Halluces10.3 Post-axial Polydactyly10.4 Syndactyly Toes 2/310.5 Hypoplastic and Missing Toes10.6 Longitudinal Plantar Creases10.7 Foot Oedema10.8 Short 4th and 5th Metatarsals10.9 Plantar Fat Pads11. The Limbs11.1 Limb Asymmetry11.2 Symmetric Short Limbs11.3 Limb Reduction Defects11.4 Localised Lumps on the Limb11.5 Arthrogryposis Congenita11.6 Joint Enlargement11.7 Generalised Joint Hypermobility11.8 Small or Absent Patella11.9 Pseudoarthrosis11.10 Madelung Deformity11.11 Hairy Elbows (Hypertrichosis Cubiti)12. The Nails, Hair, and Skin12.1 Absent or Hypoplastic Nails.12.2 "Tale of a Nail" sign12.3 Longitudinal Splitting of the Nails12.4 Short Nails12.5 Temporal Balding12.6 Sparse Hair/Alopecia12.7 Poliosis12.8 Cafe-au-Lait Patches12.9 Acanthosis Nigricans12.10 Diffuse Hypopigmented Streaky Lesions12.11 Piebaldism12.12 Cutis Marmorata12.13 Capillary Haemangioma12.14 Telangiectasia12.15 Ichthyosis12.16 Excess Skin12.17 Lentigenes12.18 Nevus Flammeus Neonatorum