Kaynakça var.

Aarskog syndrome / Roger E. Stevenson -- Achondroplasia / Richard M. Pauli -- Alagille syndrome / Binita M. Kamath and Ian Krantz -- Albinism / Richard A. King and C. Gail Summers -- Angelman syndrome / Charles A. Williams -- Arthrogryposis / Judith G. Hall -- ATR-X / Richard J. Gibbons -- Bardet-Biedl syndrome / Anne M. Slavotinek -- Beckwith-Wiedemann syndrome / Rosanna Weksberg and Cheryl Shuman -- CHARGE association / Christine A. Oley -- Coffin-Lowry syndrome / Alasdair G.W. Hunter -- Cornelia de Lange syndrome / David E. Fitzpatrick and Antonie D. Kline -- Costello syndrome / Angela E. Lin, Karen W. Gripp and Bronwyn Kerr -- Craniosynostosis / Karen W. Gripp and Elaine H. Zackai -- Denys-Drash syndrome / Carol L. Clericuzio -- Down syndrome / Alasdair G.W. Hunter -- Ehlers-Danlos syndrome / Richard J. Wenstrup and Leah B. Hoechstetter -- Fetal alcohol syndrome / Albert E. Chudley and Sally E. Longstaffe -- Fetal anticonvulsants / Renata C. Gallagher, Kerry Kingham and H. Eugene Hoyme -- Fragile X syndrome / Randi J. Hagerman -- Gorlin syndrome (nevoid basal cell carcinoma syndrome) / Peter Farndon -- Hereditary haemorrhagic telangiectasia / Mary E.M. Porteous -- Holoprosencephaly / Andrea L. Gropman and Maximilian Muenke -- Incontinetia pigmenti / Dian Donnai -- Kabuki syndrome / Louanne Hudgins -- Klinefelter syndrome / Joe Leigh Simpson ... [et al.] -- Marfan syndrome / Iris Schrijver, Deborah M. Alcorn and Uta Francke -- Myotonic dystrophy / Christine E.M. deDie Smulders, Frans G.I. Jennekens and Chris J. H"weler -- Neurofibromatosis type 1 / David Viskochil -- Noonan syndrome / Judith E. Allanson -- Oculo-auriculo-vertebral spectrum / Robert J. Gorlin -- Osteogenesis imperfecta / Joan C, Marin, Anne Letocha and Edith J. Chernoff -- Pallister-Hall and Greig cephalopolysyndactyly syndrome / Leslie G. Biesecker -- Prader-Willi syndrome / Suzanne B. Cassidy -- Proteus syndrome / Leslie G. Biesecker -- Rett syndrome / Eric E. Smeets and Connie T.R.M. Schrander-Stumpel -- Robin sequence / Robert J. Shprintzen -- Rubinstein-Taybi syndrome / Raoul C.M. Hennekam -- Russell-Silver syndrome / Howard M. Saal -- Smith-Lemli-Opitz syndrome / Christopher Cunniff and Theresa A. Grebe -- Smith-Magenis syndrome / Ann C.M. Smith -- Sotos syndrome / Trevor R.P. Cole -- Stickler syndrome / Clair Francomano, Douglas J. Wilkin and Ruth M. Liberfarb -- Terminal 22q- / Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers -- Treacher-Collins syndrome / Marilyn C. Jones -- Trisomy 13 and 18 syndromes / John C. Carey -- Tuberous sclerosis / John R.W. Yates -- Turner syndrome / Virginia P. Sybert -- VATER syndrome / Bryan D. Hall -- Velo-Cario-facial syndrome / Robert J. Shprintzen -- Von Hippel Lindau syndrome / R. Neil Schimke and Debra L. Collins -- WAGR syndrome / Carol L. Clericuzio -- Williams syndrome / Colleen A. Morris -- Wolf-Hirschhorn / Agatino Battaglia.