Keywords:
Abnormalities, Human-Diagnosis-Handbooks, manuals, etc.
;
Physical diagnosis-Handbooks, manuals, etc.
;
Electronic books.
Description / Table of Contents:
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.
Type of Medium:
Online Resource
Pages:
1 online resource (409 pages)
Edition:
2nd ed.
ISBN:
9780199970896
URL:
https://ebookcentral.proquest.com/lib/geomar/detail.action?docID=5745698
DDC:
616/.043
Language:
English
Note:
Cover -- The Bedside Dysmorphologist -- Copyright -- Contents -- Digital Media Accompanying this Book -- Preface to the First Edition -- Preface to the Second Edition -- Acknowledgments to the First Edition -- Acknowledgments to the Second Edition -- 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 -- 2 The Face -- 2.1. Hypertelorism -- 2.2. Hypotelorism -- 2.3. Abnormal Nasal Bridge -- 2.4. Abnormal Ala 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 -- 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 -- 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. Earlobe Variants -- 4.7. External Auditory Canal Atresia or Stenosis -- 4.8. Auricular Tags -- 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.
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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 -- 6 The Neck -- 6.1. Neck Webbing -- 6.2. Short Neck -- 6.3. Goiter -- 6.4. Neck Sinuses/Fistulae/Pits/Cysts -- 6.5. Occipital Horns -- 7 The Chest -- 7.1. Poland Anomaly -- 7.2. Accessory Nipples -- 7.3. Athelia/Hypothelia (absent or hypoplastic nipples) -- 7.4. Gynecomastia -- 7.5. Sloping Shoulders -- 7.6. Small Thorax -- 7.7. Pectus Excavatum and Carinatum -- 7.8. Scoliosis -- 8 The Abdomen and Perineum -- 8.1. Minor Anomalies of the Umbilicus -- 8.2. Umbilical Hernia/Omphalocele -- 8.3. Inguinal Hernia -- 8.4. Small Penis/Micropenis -- 8.5. Ambiguous Genitalia -- 8.6. Hypospadias -- 8.7. Shawl Scrotum and Penoscrotal Transposition -- 8.8. Anal Atresia, Anal Stenosis, and Anterior Displacement of the Anus -- 8.9. Caudal Appendage -- 9 The Hands -- 9.1. Postaxial Polydactyly -- 9.2. Preaxial 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 -- 10 The Feet -- 10.1. Preaxial Polydactyly -- 10.2 Broad Halluces -- 10.3 Postaxial Polydactyly -- 10.4 Syndactyly of Toes 2/3 -- 10.5 Hypoplastic and Missing Toes -- 10.6 Longitudinal Plantar Creases -- 10.7 Foot Edema -- 10.8 Short Fourth and Fifth Metatarsals -- 10.9 Plantar Fat Pads -- 11 The Limbs -- 11.1 Limb Asymmetry -- 11.2 Symmetric Short Limbs.
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11.3 Limb Reduction Defects -- 11.4 Localized Lumps on the Limb -- 11.5 Arthrogryposis Congenita -- 11.6 Joint Enlargement -- 11.7 Generalized Joint Hypermobility -- 11.8 Small or Absent Patella -- 11.9 Pseudoarthrosis -- 11.10. Madelung Deformity -- 11.11. Hairy Elbows (hypertrichosis cubiti) -- 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 Hemangioma -- 12.14. Telangiectasia -- 12.15. Ichthyosis -- 12.16 Excess Skin -- 12.17 Lentigenes -- 12.18 Nevus Flammeus Neonatorum -- Index.
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