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| Hypoplastic / aplastic kidney | Diaphragmatic Hernia(1 case) |
| Umbilical hernia | Malrotation of Bowel (1 case) |
| Cystic Kidneys | Hepatoblastoma (1 case) |
| Inguinal hernias |
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| VSD (Ventricular septal defect) | ASD (Atrial septal defect) |
| Pulmonic stenosis | Tetralogy of Fallot |
| Right sided aorta | Truncus arteriosis |
| PDA (patent ductus arteriosis) | Interrupted aorta |
| Coarctation of the aorta | Aortic valve anomalies |
| Aberrant subclavian arteries | Vascular ring |
| Anomalous carotid artery origin |
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| Learning disabilities: (mathematic concept, reading comprehension) | Concrete thinking |
| Difficulty with abstraction | Drop in IQ scores in school years: (test artifact) |
| Borderline normal intellect | Occasional mild mental retardation |
| Attention Deficit Hyperactivity Disorder (ADHD) |
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| Small posterior cranial fossa | Overt Submucous Cleft Palate |
| Occult Submucous Cleft Palate | Retrognathia (retruded lower jaw) |
| Platybasia (cephalometric finding) | Hypotonic, flacid facies |
| Asymmetric crying facies in infancy | Structurally Asymetric face |
| Functionaly asymetric face | Vertical maxillary excess |
| Straight facial profile | Enamel hypoplasia |
| Congenitally missing teeth | Small teeth |
| Downturned oral commissures | Cleft lip (uncommon) |
| Microcephaly |
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| Overfolded helix | Attached Lobules |
| Relatively small ears | Mildly asymmetric ears |
| Frequent otitis media | Mild conductive hearing loss |
| Mild sensori-neural hearing loss | Protuberant cup-shaped ears |
| Ear tags or pits (uncommon) | Narrow external ear canals |
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| Hypocalcemia | Hypoparathyroidism |
| Hypothyroidism | Mild growth deficiency |
| Relative small stature | Absent, hypoplastic Thymus |
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| Tortuous retinal vessels | Suborbital congestion ("allergic shiners) |
| Strabismus (squint) | Narrow palpebral (eyelid) fissures |
| Posterior embryotoxin | Small optic disk |
| Prominent corneal nerves | Cataract |
| Iris nodules | Iris Coloboma (rare) |
| Retinal coloboma (rare) | Small eyes |
| Mild orbital hypertolerism | Puffy eyelids |
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Hypospadius | Cryptorchidism |
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| Frequent upper respiratory infections | Frequent lower airway disease (pneumonia, bronchitis) |
| Reduced T cell populations | Reduced thymic hormone |
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| Feeding difficulty, Failure to thrive | Gastroesophageal reflux |
| Nasal regurgitation | Irritability |
| Constipation (not related to Hirschsprung megacolon) | Nasal regurgitation |
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| Small hands and feet | Tapered digits |
| Short nails | Rough, red scaley skin on hands and feet |
| Morphea | Contractures (shortening of muscle or scar tissue)(uncommon) |
| Triphalangeal Thumbs (uncommon) | Polydactyly (uncommon) |
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| Spontaneous oxygen desauration without apnea |
| Thromboctopenia, Bernard-Soulier disease |
| Juvenile Rheumatoid arthritus |
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| Prominent nasal bridge | Bulbous nasal tip |
| Mildly bifid nasal tip | Pinched alar base, narrow nostrils |
| Narrow nasal passages |
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| Periventricular cysts (mostly at anterior horns) | Small cerebellar vermis, small posterior fossa |
| White matter UBOs (unidentified bright objects) | Cerebellar hypoplasia/dysgenesis |
| Hypotonia | Cerebellar ataxia (defective muscle control) |
| Seizures | Spina bifida / meningomyelocele |
| Strokes | Mild developemental delay |
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| Upper airway obstruction in infancy | Absent or small adenoids |
| Laryngeal web (anterior) | Large pharyngeal airway |
| Laryngomalacia | Arytenoid hyperplasia |
| Pharyngeal hypotonia | Asymetric pharyngeal movement |
| Thin pharyngeal muscle | Unilateral vocal cord paresis |
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| Bipolar affective disorder | Mood disorder |
| Manic depressive illness/psychosis | Hypomania |
| Schizoaffective disorder | Impulsiveness |
| Flat affect | Dysthymia |
| Cyclothymia | Social Immaturity |
| Rapid cycling of mood disorder | Depression |
| Obsessive compulsive disorder | Generalized anxiety disorder |
| Phobias |
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| Robin Sequence | DiGeorge Sequence |
| Potter Sequence | CHARGE Sequence |
| Holoproscencephaly (1 case) |
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| Scoliosis, minor vertebral anomalies | Sprengel's anomaly, scapular deformation |
| Osteopenia | Talipes equinovarus |
| Small skeletal muscles | Joint dislocations |
| Chronic leg pains | Flat foot arches |
| Hyerextensible / lax joints |
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| Abundant scalp hair |
| Thin appearing skin (venous patterns easily seen) |
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| Sever hypernasality | Severe articulation impairment |
| Language impairment (usually mild delay) | Velopharyngeal insufficiency (usually severe) |
| Dyspraxia | High pitched voice |
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| Aberrant internal carotid arteries | Aberrant internal vertebral arteries |
| Reynaud's phenomenon | Medially displaced internal carotid arteries |
| Tortuous / kinked internal carotid arteries | Low bifurcation of common carotid |
| Missing or hypoplastic A1 segment in Circle of Willis | Small veins |
| Tortuous / kinked vertebral arteries |
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