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INDEX Aarskog syndrome, 1–8 manifestations and management, albinism, 47 dental anomalies, 5–6 11–27 Costello syndrome, 225, 226 development and behavior problems, 5 musculoskeletal anomalies, 22–26 Down syndrome, 366 diagnostic criteria, 1–2 neurological anomalies, 17–20 Wolf–Hirschhorn syndrome, diagnostic testing, 4 respiratory anomalies, 20–21 270, 275 differential diagnosis, 4 Acrocallosal syndrome, differential diagnosis, Aicardi syndrome, differential diagnosis, deletion fetal anticonvulsant syndrome, 428 Greig cephalopolysyndactyly 1p36 syndrome, 255 Noonan syndrome, 654 syndrome, 710 Airway obstruction: etiology, pathogenesis, and genetics, 3–4 Acrofacial dysostoses, Nager syndrome, 809 Robin sequence, 807, 808 genital abnormalities, 6–7 Action myoclonus‐renal failure syndrome, 343 Stickler syndrome, 921 growth and feeding problems, 4–5 ACVRL1 gene mutation, hereditary hemorrhagic Treacher Collins syndrome, 931 incidence, 1 telangiectasia, 476 trisomy 13 and 18 syndromes, 952 manifestations and management, 4–7 ADAMTS2 gene, Ehlers–Danlos syndromes, 397 Alagille syndrome, 31–44 musculoskeletal anomalies, 6 Adaptive function: cardiovascular anomalies, 38–40 neurological anomalies, 6 Down syndrome, 363 development and behavior problems, 36 ophthalmologic anomalies, 5 fetal alcohol spectrum disorders, 413 diagnostic criteria, 32–34 Abnormal spontaneous brainstem activation, 801 fetal anticonvulsant syndrome, 431 diagnostic testing, 35 Acanthosis nigricans: 48,XXYY syndrome, 553 differential diagnosis, 35–36 achondroplasia, 11 Smith–Magenis syndrome, 873–874 deletion 22q11.2 syndrome, 298 Costello syndrome, 236 velo‐cardio‐facial syndrome, 300 etiology, pathogenesis, and genetics, 34–36 N‐acetylcysteine, Prader–Willi syndrome, 756 Adrenal insufficiency: genetic counseling, 35 Achondrogenesis type I, differential diagnosis, holoprosencephaly, 498 genitourinary anomalies, 40 osteogenesis imperfecta, 693 Pallister–Hall syndrome, 711 growth and feeding problems, 36 Achondroplasia, 9–30 Prader–Willi syndrome, 750, 751 incidence, 31–32 dental anomalies, 26 Adrenarche: manifestations and management, 36–41 development and behavior problems, 16–17COPYRIGHTEDATR‐X syndrome, 101 MATERIALmusculoskeletal anomalies, 40–41 diagnostic criteria, 9–10 Prader–Willi syndrome, 736 ophthalmologic anomalies, 40 diagnostic testing, 11 Silver–Russell syndrome, 844–845 Albinism, 45–59 differential diagnosis, 11 Smith–Magenis syndrome, 886 dermatologic anomalies, 50–52 ear anomalies, 21 Adrenocorticotropic hormone (ACTH): development and behavior problems, 50 etiology, pathogenesis, and genetics, 10–11 inverted duplicated chromosome 15 diagnostic criteria, 46–47 growth and feeding problems, 12–16 syndrome, 523 diagnostic testing, 47–49 hearing disorders, 21 Pallister–Hall syndrome, 711 differential diagnosis, 50 incidence, 9 Aging, premature: etiology, pathogenesis, and genetics, 47 Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition. Edited by John C. Carey, Agatino Battaglia, David Viskochil, and Suzanne B. Cassidy. © 2021 John Wiley & Sons, Inc. Published 2021 by John Wiley & Sons, Inc. 1039 0004944829.INDD 1039 9/25/2020 7:13:41 AM 1040 INDEX Albinism (cont’d) Angelman syndrome, 61–73 Aortic dilatation: gastrointestinal anomalies, 55 development and behavior problems, 66–69 in deletion 22q11.2 syndrome, 304 hearing disorders, 48 diagnostic criteria, 61 in hereditary hemorrhagic telangiectasia, 475 hematologic disorders, 53–54 diagnostic testing, 64–65 in Marfan syndrome, 577, 579, 581, 589, 593 incidence, 45–46 differential diagnosis, 65–66 in Pallister–Killian syndrome, 727 manifestations and management, 50–55 ATR‐X syndrome, 98, 99 in Sotos syndrome, 909 ophthalmologic anomalies, 52–53 deletion 1p36 syndrome, 255 in Turner syndrome, 981, 983 pulmonic anomalies, 54 deletion 5p syndrome, 283 Apert syndrome: Albright hereditary osteodystrophy, differential deletion 22q13 syndrome, 321 cardiovascular anomalies, 249 diagnosis, Prader–Willi syndrome, 741 inverted duplicated chromosome 15 development and behavior Alcohol consumption, fetal alcohol spectrum syndrome, 518 problems, 247 disorders, 405–424 Mowat–Wilson syndrome, 601 diagnostic criteria, 241–242 Allelic conditions: Rett syndrome, 797 diagnostic testing, 246 ATR‐X syndrome, 94–95 etiology, pathogenesis, and genetics, 61–62 etiology, pathogenesis, and genetics, 245 Juberg–Marsidi syndrome, 102 genetic counseling, 65 genitourinary anomalies, 250 Allelic pleiotropic developmental anomaly growth and feeding problems, 66 otolaryngologic anomalies, 248 syndromes: incidence, 61 skeletal anomalies, 249 Greig cephalopolysyndactyly syndrome, language difficulties, 67 Apneic deaths: 707–716 manifestations and management, 66–70 achondroplasia, 18, 19 Pallister–Hall syndrome, 707–716 musculoskeletal anomalies, 70 Turner syndrome, 982 Alobar holoprosencephaly, 487 neurological anomalies, 69–70 Apolipoprotein E (APOE gene), Down syndrome craniofacial anomalies, 497 ophthalmologic anomalies, 70 and Alzheimer disease, 359 development and behavior problems, Angiofibromas, tuberous sclerosis complex, 968 Arachnodactyly, Marfan syndrome, 588 495–496 Angiomyolipomas, tuberous sclerosis complex, Arachnoid cysts, Phelan–McDermid diagnostic criteria, 488 959, 970, 972 syndrome, 326 diagnostic testing, 494 Angiotensin‐converting enzyme (ACE) inhibitors, ARID1A gene mutations, Coffin–Siris etiology, pathogenesis, and genetics, 492 Marfan syndrome, 589, 593 syndrome, 189 incidence, 487–488 Angiotensin receptor blockers, Loeys–Dietz ARID1B gene mutations, Coffin–Siris syndrome, neurological anomalies, 498–499 syndrome, 566, 571 185, 189 Alopecia: Aniridia: Array comparative genomic hybridization Costello syndrome, 226, 236 aniridia associated keratopathy, 345 (aCGH): Down syndrome, 378 WAGR syndrome, 336, 342 ATR‐X syndrome, 97 incontinentia pigmenti, 509, 510 ANKRD11 gene Cornelia de Lange syndrome, 211 Cohen syndrome, 199 myotonic dystrophy type 1, 622 Anorectal anomalies: Cornelia de Lange syndrome, 212 Pallister–Killian syndrome, 718 Kabuki syndrome, 535 Pallister–Killian syndrome, 722 Turner syndrome, 990 Pallister–Killian syndrome, 727 Arrhythmias: Alstrom syndrome differential diagnosis: VATER/VACTERL association, 1000, 1001 Costello syndrome, 232 Bardet–Biedl syndrome, 112 Anosmia: myotonic dystrophy type 1, 621 Cohen syndrome, 199 Bardet–Biedl syndrome, 118 Noonan syndrome, 658 Alzheimer disease Down syndrome, 359, 365 CHARGE syndrome, 160, 161, 166 Arterial tortuosity syndrome: Amsterdam dwarfism. See Cornelia de Lange holoprosencephaly, 493 differential diagnosis syndrome Antiepileptics/anticonvulsants: Loeys–Dietz syndrome, 568 Amyloid precursor protein (APP) gene: fetal anticonvulsant syndrome, 425, 432 Marfan syndrome, 585 Down syndrome and Alzheimer disease, 365 fragile X syndrome, 450 Arteriohepatic dysplasia. See Alagille syndrome: fragile‐X syndrome, 443 Robin sequence, 811 Arthritis. See also Osteoarthritis: Amyoplasia arthrogryposis, 75, 77, 79–85 Smith–Magenis syndrome, 877 arthrogryposis, 85 Androgen replacement therapy: tuberous sclerosis complex, 967 Stickler syndrome, 922 49,XXXXY syndrome, 559 Antihistamines, Alagille syndrome, 37 Arthrogryposis, 75–91 Klinefelter syndrome, 550 Anti‐hypertensives: development and behavior problems, 84–85 Anemia: Loeys‐Dietz syndrome, 571 diagnostic criteria, 75–76 ATR‐X syndrome, 93, 101 Marfan syndrome, 593 diagnostic testing, 77 Cohen syndrome, 202 Anti‐RANK ligand antibody, osteogenesis differential diagnosis, 79 Cornelia de Lange syndrome, 217, 219 imperfecta, 697 ear anomalies, 88 Denys–Drash syndrome, 343 Anxiety: etiology, pathogenesis, and genetics, 77 Down syndrome, 379 Costello syndrome, 232 growth and feeding problems, 79–84 hereditary hemorrhagic telangiectasia, 478 Down syndrome, 364 hearing disorders, 88 Noonan syndrome, 660 fetal alcohol spectrum disorders, 415 incidence, 75 Proteus syndrome, 769 fragile X syndrome, 445 manifestations and management, 79–88 VATER/VACTERL association, 997 Klinefelter syndrome, 556 musculoskeletal anomalies, 85–87 Anesthesia risks: Noonan syndrome, 657 neurological anomalies, 87 achondroplasia, 26 Prader–Willi syndrome, 745 ophthalmologic anomalies, 87 myotonic dystrophy type 1, 624 Williams syndrome, 1026 respiratory anomalies, 87–88 Prader–Willi syndrome, 756 Aortic coarctation: Aryl hydrocarbon receptor nuclear translocator Rubinstein–Taybi syndrome, 832 neurofibromatosis type 1, 645 (ARNT), von Hippel–Lindau Treacher Collins syndrome, 933 Turner syndrome, 981 syndrome, 1006 0004944829.INDD 1040 9/25/2020 7:13:41 AM INDEX 1041 Assisted reproductive technology: Costello syndrome, 232 Stickler syndrome, 918 Beckwith–Wiedemann syndrome, 131 deletion 5p syndrome, 284 Back pain: Turner syndrome, 984–985 Down syndrome, 364 Loeys–Dietz syndrome, 570 Asthenic body habitus, Marfan syndrome, 587 fetal valproate syndrome, 431 Marfan syndrome, 587, 588, 591 ASXL1 gene mutations, Bohring–Opitz fragile X syndrome, 447 osteogenesis imperfecta, 694 syndrome, 212 inverted duplicated chromosome 15 syndrome, Sotos syndrome, 910 Ataxia: 517, 520–521 Bannayan–Riley–Ruvalcaba syndrome: Angelman syndrome, 64, 66 Kabuki syndrome, 532 development and behavior problems, 782 Bardet–Biedl syndrome, 118 Klinefelter syndrome, 545 diagnostic criteria, 776–777 deletion 22q11.2 syndrome, 304 myotonic dystrophy type 1, 618 diagnostic testing, 779 fragile X syndrome, 443, 445, 450 neurofibromatosis type 1, 632, 637 differential diagnosis, hereditary hemorrhagic Gorlin syndrome, 464 Noonan syndrome, 656 telangiectasia,
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  • Differential Diagnoses of Overgrowth Syndromes: the Most Important Clinical and Radiological Disease Manifestations

    Differential Diagnoses of Overgrowth Syndromes: the Most Important Clinical and Radiological Disease Manifestations

    Hindawi Publishing Corporation Radiology Research and Practice Volume 2014, Article ID 947451, 7 pages http://dx.doi.org/10.1155/2014/947451 Review Article Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations Letícia da Silva Lacerda,1 Úrsula David Alves,1 José Fernando Cardona Zanier,1 Dequitier Carvalho Machado,1,2 Gustavo Bittencourt Camilo,1,2 and Agnaldo José Lopes2 1 Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil 2 Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil Correspondence should be addressed to Agnaldo Jose´ Lopes; [email protected] Received 12 March 2014; Revised 19 May 2014; Accepted 27 May 2014; Published 9 June 2014 Academic Editor: Andreas H. Mahnken Copyright © 2014 Let´ıcia da Silva Lacerda et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung’s disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes.