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© Copyrighted Material by PRO-ED, Inc Quick Reference Guide This index may help determine a clinical diagnosis. Fairly common dysmorphic features are listed with corresponding syndromes in which the characteristic is a frequent find­ ing. The syndrome features are arranged under the following anatomical categories: • Central Nervous Systetnl xv Mental Deficiency .. xv • Skull xvi • Face xvi • Eyes xvi xvi xvi xvii • xvii Inc. xvii • Ears '···>CentraINervousSystem/MentaIDeficieney· PRO-ED, Bardet-Biedl Syndrome 113 by Cornelia de Lange Syndrome 198 Down Syndrome 28 Fetal Alcohol Spectrum Disorder 222 Fetal Cytomegalovirus Syndrome 227material Fetal Rubella Syndrome 232 Fragile X Syndrome 158 Mucopolysaccharidoses Syndromes (MPS) 121 Noonan Syndrome 78 Prader-Willi Syndrome 214 Refsum Disease copyrighted137 © Apert Syndrome 47 Cornelia de Lange Syndrome 198 Crouzon Syndrome 58 Down Syndrome 28 xi xii Quick Reference Guide Asymmetry Goldenhar Syndrome 203 Treacher Collins Syndrome 95 Facial Palsy Moebius Syndrome 209 Flat Apert Syndrome 47 Crouzon Syndrome 58 Down Syndrome 28 Stickler Syndrome 90 Anteverted Nares Cornelia de Lange Syndrome 198 Fetal Alcohol Spectrum Disorder 222 Broad Nasal Tip Inc. Oro-Facial-Digital Syndrome Type II 129 Downturned Upper Lip Cornelia de Lange Syndrome 198 Midface Hypoplasia PRO-ED, Fetal Alcohol Spectrum Disorder 222 by Confluent Eyebrows Cornelia de Lange Syndrome 198 Coarse Facial Features Mucopolysaccharidoses Syndromes 121 material Eyes Bardet-Biedl Syndrome (retinitis pigmentosa) 113 Fetal Cytomegalovirus Syndrome (chorioretinitis) 227 Fetal Rubella Syndrome (chorioretinitis)copyrighted 232 Refsum Disease (retinitis© pigmentosa) 137 Stickler Syndrome (retinal detachment) 90 Usher Syndrome (retinitis pigmentosa) 146 Ptosis Apert Syndrome 47 Crouzon Syndrome 58 Fetal Alcohol Spectrum Disorder 222 Quick Reference Guide xiii Moebius Syndrome 209 Noonan Syndrome 78 PALPEBRAL f='ISSURES Small/Short Down Syndrome 28 Fetal Alcohol Spectrum Disorder 222 Prader-Willi Syndrome 214 Treacher Collins Syndrome 95 Waardenburg Syndrome 108 Coloboma Treacher Collins Syndrome 95 Downward Slanting Apert Syndrome 47 Crouzon Syndrome 58 Oto-Palatal-Digital Syndrome 163 Inc. Inner Epicanthal Folds Down Syndrome 28 Fetal Alcohol Spectrum Disorder 222 Noonan Syndrome 78 PRO-ED, Oro-Facial-Digital Syndrome Type n 129 Turner Syndrome 38 by Waardenburg Syndrome 108 SCLERA material Blue Osteogenesis Imperfecta 84 Epibulbar Dermoids Goldenhar Syndrome 203 STRABISMUS copyrighted Apert Syndrome© 47 Crouzon Syndrome 58 Moebius Syndrome 209 Wildervanck Syndrome 168 I-iVPERTELORISM Apert Syndrome 47 xiv Quick Reference Guide Cleft Lip and/or Cleft Palate 174 Crouzon Syndrome 58 Noonan Syndrome 78 Oro-Facial-Digital Syndrome Type II 129 Usher Syndrome 146 MISCELLANEOUS Apert Syndrome (prominent) 47 Down Syndrome (Brush field spots) 28 Fetal Rubella Syndrome (cataracts, glaucoma) 232 MaxitlaoFi Mandib1e Hypoplasia Apert Syndrome 47 Crouzon Syndrome 58 Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 64 Inc. Fetal Alcohol Spectrum Disorder 222 Fragile X Syndrome 158 Goldenhar Syndrome 203 Oro-Facial-Digital Syndrome Type 11 129 Oto-Palatal-Digital Syndrome 163 PRO-ED, Pierre-Robin Sequence 182 by Stickler Syndrome 90 Treacher Collins Syndrome 95 ··OeftiLipand/orCleft·Palate material Cleft Lip and/or Cleft Palate 174 Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 64 Fetal Alcohol Spectrum Disorder 222 Oro-Facial-Digital Syndrome Type II 129 Oto-Palatal-Digital Syndromecopyrighted 163 Pierre-Robin Sequence 182 Stickler Syndrome 90 © Treacher Collins Syndrome 95 Van der Woude Syndrome 103 Mouth/Lips/Tongue Oro-Facial-Digital Syndrome Type II 129 Quick Reference Guide xv Pierre-Robin Sequence (glossoptosis) 182 Usher Syndrome (lip pits) 146 Cleft Lip and/or Cleft Palate 174 Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 64 Fetal Alcohol Spectrum Disorder 222 Oro-Facial-Digital Syndrome Type II 129 Osteogenesis Imperfecta 84 Oto-Palatal-Digital Syndrome 163 Treacher Collins Syndrome 95 Van der Woude Syndrome 103 Branchio-Oto-Renal Syndrome 53 Inc. Down Syndrome 28 Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 64 Fetal Alcohol Spectrum Disorder 222 Fragile X Syndrome 158 Goldenhar Syndrome 203 PRO-ED, Noonan Syndrome 78 by Treacher Collins Syndrome 95 Hand's/Peet· .. Apert Syndrome (synostosis and/or syndactyly)material 47 Bardet-Biedl Syndrome (polydactyly) 113 Oro-Facial-Digital Syndrome Type II (polydactyly) 129 Prader-Willi Syndrome 214 copyrighted Cornelia de Lange© Syndrome (phocomelia or oligodactyly) 198 Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 64 Fetal Alcohol Spectrum Disorder 222 Goldenhar Syndrome (vertebral dysplasia) 203 Mucopolysaccharidoses Syndromes 121 Noonan Syndrome 78 Osteogenesis Imperfecta 84 xvi Quick Reference Guide Oto-Palatal-Digital Syndrome 163 Prader-Willi Syndrome (hypotonia) 214 Stickler Syndrome 90 Turner Syndrome 38 Wildervanck Syndrome 168 Skin 0Jeurofibromatosis Type 1 69 Hiley-Day Syndrome (blotching) 142 Turner Syndrome (webbing) 38 \Naardenburg Syndrome 108 ;l4ait.··· Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (sparse) 64 Cornelia de Lange Syndrome (hirsutism, medial flare eyebrows) 198 Inc. Mucopolysaccharidoses Syndromes (coarse) 121 Waardenburg Syndrome (medial flare eyebrows, white forelock) 108 PRO-ED, Down Syndrome 28 Fetal Alcohol Spectrum Disorder 222 by Fetal Hubella Syndrome 232 Jervell and Lange-0Jielsen Syndrome 117 Mucopo!ysaccharidoses Syndromes 121 Noonan Syndrome 78 material Turner Syndrome 38 . Gastrointestinat Down Syndrome (duodena! atresia) 28 copyrighted . 'Kidneys· © Alport Syndrome 153 Branchio-Oto-Hena! Syndrome 53 Fetal Alcohol Spectrum Disorder 222 Quick Reference Guide xvii Genitals/Groin Fragile X Syndrome 158 Bardet-Biedl Syndrome 113 Mucopolysaccharidoses Syndromes (inguinal hernias) 121 Prader-Willi Syndrome (cryptorchidism) 214 I;ndocrine Down Syndrome 28 Pendred Syndrome ] 32 Prader-Willi Syndrome 214 Riley-Day Syndrome 142 Turner Syndrome 38 Obesity Bardet-Biedl Syndrome 113 Inc. Prader-Willi Syndrome 214 PRO-ED, by material copyrighted © .
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