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TABLE 1

Clinical Findings in PWS

Fetal 
    Breech position 
    Reduced fetal activity 
    Polyhydramnios 
Growth 
    Short stature 
    Failure to thrive in infancy 
    Central obesity 
Head and neck 
    Dolichocephaly 
    Narrow bitemporal diameter 
    Almond-shaped eyes 
    Strabismus 
    Up-slanting palpebral fissures 
    Myopia 
    Hyperopia 
    Thin upper lip 
    Small-appearing mouth 
    Down-turned corners of mouth 
    Thick, viscous (reduced) saliva 
    Enamel hypoplasia 
    Early dental caries 
    Dental crowding and malocclusion 
Ocular 
    Strabismus 
    Nystagmus 
    Cataracts (rare) 
    Retinal hypopigmentation 
    Foveal hypoplasia 
    Hyperopia 
    Myopia 
Respiratory 
    Hypoventilation 
    Obstructive sleep apnea 
    Central sleep apnea 
Gastrointestinal 
    Feeding problems in infancy 
    Gastroesophageal reflux 
    Decreased vomiting 
Genitourinary 
    Small penis 
    Scrotal hypoplasia 
    Cryptorchidism 
    Hypoplastic labia minora 
    Hypoplastic clitoris 
Skeletal 
    Osteoporosis 
    Osteopenia 
    Scoliosis 
    Kyphosis 
    Small hands and feet 
    Narrow hands with straight ulnar border 
    Clinodactyly 
Skin, nails, hair 
    Hypopigmentation 
    Blonde to light-brown hair 
    Frontal hair upsweep 
Neurologic 
    Severe neonatal hypotonia that improves with age 
    Poor neonatal suck and swallow reflexes 
    Poor gross motor coordination 
    Poor fine motor coordination 
    Mild-to-moderate mental retardation 
    Learning disabilities 
    Increased risk of seizures 
    Global developmental delay 
    Speech-articulation problems 
    Hyperphagia 
Sleep 
    Snoring/obstructive sleep apnea 
    Central apnea during sleep 
    Excessive daytime sleepiness 
    Early-morning waking 
    Night-awakening for food-seeking 
Voice 
    Hypernasal speech 
    Weak or squeaky cry in infancy 
Endocrine 
    Hyperinsulinemia 
    GH deficiency 
    Hypogonadotropic hypogonadism 
    Diabetes mellitus (type 2) 
Behavior/mental health 
    Skin picking 
    Rectal picking 
    Food related behavioral problems 
    Temper tantrums 
    Difficulty with transitions 
    Stubbornness 
    Obsessive behaviors 
    Perseverant speech 
    Obsessive-compulsive disorder 
    Psychosis 
    Elopement 
Miscellaneous 
    Temperature instability 
    High pain threshold 
    Unusual skill with jigsaw puzzles 
Fetal 
    Breech position 
    Reduced fetal activity 
    Polyhydramnios 
Growth 
    Short stature 
    Failure to thrive in infancy 
    Central obesity 
Head and neck 
    Dolichocephaly 
    Narrow bitemporal diameter 
    Almond-shaped eyes 
    Strabismus 
    Up-slanting palpebral fissures 
    Myopia 
    Hyperopia 
    Thin upper lip 
    Small-appearing mouth 
    Down-turned corners of mouth 
    Thick, viscous (reduced) saliva 
    Enamel hypoplasia 
    Early dental caries 
    Dental crowding and malocclusion 
Ocular 
    Strabismus 
    Nystagmus 
    Cataracts (rare) 
    Retinal hypopigmentation 
    Foveal hypoplasia 
    Hyperopia 
    Myopia 
Respiratory 
    Hypoventilation 
    Obstructive sleep apnea 
    Central sleep apnea 
Gastrointestinal 
    Feeding problems in infancy 
    Gastroesophageal reflux 
    Decreased vomiting 
Genitourinary 
    Small penis 
    Scrotal hypoplasia 
    Cryptorchidism 
    Hypoplastic labia minora 
    Hypoplastic clitoris 
Skeletal 
    Osteoporosis 
    Osteopenia 
    Scoliosis 
    Kyphosis 
    Small hands and feet 
    Narrow hands with straight ulnar border 
    Clinodactyly 
Skin, nails, hair 
    Hypopigmentation 
    Blonde to light-brown hair 
    Frontal hair upsweep 
Neurologic 
    Severe neonatal hypotonia that improves with age 
    Poor neonatal suck and swallow reflexes 
    Poor gross motor coordination 
    Poor fine motor coordination 
    Mild-to-moderate mental retardation 
    Learning disabilities 
    Increased risk of seizures 
    Global developmental delay 
    Speech-articulation problems 
    Hyperphagia 
Sleep 
    Snoring/obstructive sleep apnea 
    Central apnea during sleep 
    Excessive daytime sleepiness 
    Early-morning waking 
    Night-awakening for food-seeking 
Voice 
    Hypernasal speech 
    Weak or squeaky cry in infancy 
Endocrine 
    Hyperinsulinemia 
    GH deficiency 
    Hypogonadotropic hypogonadism 
    Diabetes mellitus (type 2) 
Behavior/mental health 
    Skin picking 
    Rectal picking 
    Food related behavioral problems 
    Temper tantrums 
    Difficulty with transitions 
    Stubbornness 
    Obsessive behaviors 
    Perseverant speech 
    Obsessive-compulsive disorder 
    Psychosis 
    Elopement 
Miscellaneous 
    Temperature instability 
    High pain threshold 
    Unusual skill with jigsaw puzzles 
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