The bedside dysmorphologist (eBook, 2015) [WorldCat.org]
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The bedside dysmorphologist

Author: William Reardon
Publisher: New York ; Oxford : Oxford University Press, 2015.
Edition/Format:   eBook : Document : English : 2. edView all editions and formats
Summary:
Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an  Read more...
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Details

Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: William Reardon
ISBN: 9780199970889 0199970882
OCLC Number: 927824970
Description: 1 online resource
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 Cafe-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
Responsibility: William Reardon.

Abstract:

The Bedside Dysmorphologist is a thoughtful clinical guide to common-and often quite subtle-congenital malformations in clinical exam.  Read more...

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"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 Read more...

 
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