Quick Reference Guide
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1 This index may help determine a clinical diagnosis. Fairly common dysmorphic features are listed with corresponding syndromes in which the characteristic is a frequent finding. The syndrome features are arranged under the following anatomical categories: Central Nervous Systetnl Mental Deficiency.. Skull Face Eyes Ears ' >CentraINervousSystem/MentaIDeficieney Bardet-Biedl Syndrome 113 Fetal Cytomegalovirus Syndrome 227 Fetal Rubella Syndrome 232 Mucopolysaccharidoses Syndromes (MPS) 121 Refsum Disease 137 xv xv i i i xi
2 xii Quick Reference Guide Asymmetry Facial Palsy Moebius Syndrome 209 Flat Anteverted Nares Broad Nasal Tip Downturned Upper Lip Midface Hypoplasia Confluent Eyebrows Coarse Facial Features Mucopolysaccharidoses Syndromes 121 Eyes Bardet-Biedl Syndrome (retinitis pigmentosa) 113 Fetal Cytomegalovirus Syndrome (chorioretinitis) 227 Fetal Rubella Syndrome (chorioretinitis) 232 Refsum Disease (retinitis pigmentosa) 137 Stickler Syndrome (retinal detachment) 90 Usher Syndrome (retinitis pigmentosa) 146 Ptosis
3 xiii Moebius Syndrome 209 PALPEBRAL f='issures Small/Short Waardenburg Syndrome 108 Coloboma Downward Slanting Inner Epicanthal Folds Oro-Facial-Digital Syndrome Type n 129 Waardenburg Syndrome 108 SCLERA Blue Osteogenesis Imperfecta 84 Epibulbar Dermoids STRABISMUS Moebius Syndrome 209 Wildervanck Syndrome 168 I-iVPERTELORISM
4 xiv Quick Reference Guide Cleft Lip and/or Cleft Palate 174 Usher Syndrome 146 MISCELLANEOUS Apert Syndrome (prominent) 47 Down Syndrome (Brush field spots) 28 Fetal Rubella Syndrome (cataracts, glaucoma) 232 MaxitlaoF i Mandib1e Hypoplasia Oro-Facial-Digital Syndrome Type Pierre-Robin Sequence 182 OeftiLipand/orCleft Palate Cleft Lip and/or Cleft Palate 174 Pierre-Robin Sequence 182 Van der Woude Syndrome 103 Mouth/Lips/Tongue
5 xv Pierre-Robin Sequence (glossoptosis) 182 Usher Syndrome (lip pits) 146 Cleft Lip and/or Cleft Palate 174 Osteogenesis Imperfecta 84 Van der Woude Syndrome 103 Branchio-Oto-Renal Syndrome 53 Hand's/Peet.. Apert Syndrome (synostosis and/or syndactyly) 47 Bardet-Biedl Syndrome (polydactyly) 113 Oro-Facial-Digital Syndrome Type II (polydactyly) 129 Cornelia de Lange Syndrome (phocomelia or oligodactyly) 198 Goldenhar Syndrome (vertebral dysplasia) 203 Mucopolysaccharidoses Syndromes 121 Osteogenesis Imperfecta 84
6 Quick Reference Guide Prader-Willi Syndrome (hypotonia) 214 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 Mucopolysaccharidoses Syndromes (coarse) 121 Waardenburg Syndrome (medial flare eyebrows, white forelock) 108 Fetal Hubella Syndrome 232 Jervell and Lange-0Jielsen Syndrome 117 Mucopo!ysaccharidoses Syndromes 121. Gastrointestinat Down Syndrome (duodena! atresia) 28. 'Kidneys Alport Syndrome 153 Branchio-Oto-Hena! Syndrome 53
7 i Genitals/Groin Bardet-Biedl Syndrome 113 Mucopolysaccharidoses Syndromes (inguinal hernias) 121 Prader-Willi Syndrome (cryptorchidism) 214 I;ndocrine Pendred Syndrome ] 32 Riley-Day Syndrome 142 Obesity Bardet-Biedl Syndrome 113
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