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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

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