American Journal of Medical Genetics Part A
© Wiley Periodicals, Inc.
Edited By: John C. Carey
Impact Factor: 2.159
ISI Journal Citation Reports © Ranking: 2014: 104/167 (Genetics & Heredity)
Online ISSN: 1552-4833
Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Virtual Issue: Growth Curves for Genetic Syndromes and Physical Characteristics
The following 16 articles published in the American Journal of Medical Genetics over the last two decades comprise a Special Virtual Issue on growth curves in syndromes. In the routine care and management of individuals with specific genetic conditions, the value of available standard curves for physical measurements is well recognized. By having these charts a growth point can be compared with the standards for other individuals with the condition rather than with measurements of the general population. In that way, a deviation from expected can be properly considered; if the person is within the standards, then she (and/or her parents) can be reassured that this is within the range of the syndrome. Additionally, the role of a particular manifestation (e.g., a heart malformation) in the individual can be evaluated within the right context.
This Issue also includes a paper on physical measurements of specific features (nasal and philtral growth charts), an equally important resource in the evaluation of individuals with potential syndromes. These types of curves are crucial as underscored throughout the series on papers in the January 2009 Special Issue of AJMG, “Elements of Morphology: Standard Terminology,” and more recently, in the November 2012 Special Issue of AJMG, "Growth Charts in Genetic Syndromes." All of the terms encompassed in that issue were classified as objective or subjective ; the majority of those phenotypic variations categorized as objective were labeled as such based on the presence of standard growth curves for the feature ( e.g , calling a Short Ear depended on the measurement of the longitudinal ear length falling greater than 2 SD below the mean).
This Virtual Issue is published with free access and in conjunction with the announcement of AJMG’s Call for Papers on Growth Curves for Genetic Syndromes and Physical Characteristics. Submissions for the Special Issue of AJMG are due by December 1, 2011. The Special Issue will be published in AJMG in 2012. Contact the editorial office for more information (firstname.lastname@example.org).
FREE ACCESS ARTICLES
Growth of the foramen magnum in achondroplasia
Jacqueline T. Hecht, William A. Horton, Cheryl S. Reid, Reed E. Pyeritz and Ranajit Chakraborty. 1989. AJMG 32:528-535.
Ettore Piro, Carmelo Pennino, Marina Cammarata, Giovanni Corsello, Adele Grenci, Carmela Lo Giudice, Maria Morabito, Maria Piccione and Liborio Giuffrè. 1990. AJMG 37: Issue S7: 66–70.
Christina G. S. Palmer, Christine Cronk, Siegfried M. Pueschel, Krystyna E. Wisniewski, Renata Laxova, Allen C. Crocker and Richard M. Pauli. 1992. AJMG 42:61–67.
Antonie D. Kline, Marie Barr and Laird G. Jackson. 1993. AJMG 47:1042–1049.
Natural History of Trisomy 18 and Trisomy 13: I. Growth, Physical Assessment, Medical Histories, Survival, and Recurrence Risk
Bonnie J. Baty, Brent L. Blackburn, and John C. Carey. 1994. AJMG 49:175-188.
Alasdair G. W. Hunter, Cheryl S. Reid, Richard M. Pauli and Charles I. Scott Jr.
1996. AJMG 62: 91–97.
Standard weight for height curves in achondroplasia
Alasdair G. W. Hunter, Jacqueline T. Hecht and Charles I. Scott Jr. 1996. AJMG 62:255-261.
M. Clementi, S. Milani, I. Mammi, S. Boni, C. Monciotti and R. Tenconi. 1999. AJMG 87:317–323.
R. Catrinel Marinescu, Paola Cerruti Mainardi, Margaret Ross Collins, Martine Kouahou, Gabriella Coucourde, Guido Pastore, Jill Eaton-Evans and Joan Overhauser. 2000. AJMG 94: 153–162.
Toshiro Nagai, Nobutake Matsuo, Yasushi Kayanuma, Hidefumi Tonoki, Yoshimitsu Fukushima, Hirofumi Ohashi, Takayasu Murai, Tomoko Hasegawa, Yoshikazu Kuroki and Norio Niikawa. 2000. AJMG 95:130–134.
J.H. Miles, L.L. Hadden, T.N. Takahashi and R.E. Hillman. 2000. AJMG 95: 339–350
Gurkan Erkula, Kevin B. Jones, Paul D. Sponseller, Harry C. Dietz and Reed E. Pyeritz. 2002. AJMG 109:100–115
Andreas Zankl, Lukas Eberle, Luciano Molinari and Albert Schinzel. 2002. AJMG 111:388–391.
Jacqueline A. Noonan, Renske Raaijmakers and Bryan Hall. 2003. AJMG-A 123A:68–71.
J.E. Hoover-Fong, J. McGready, K.J. Schulze, H. Barnes and C.I. Scott. 2007. AJMG-A 143A: 2227–2235.
Adriana M. Montaño, Shunji Tomatsu, Ana Brusius, Mary Smith and Tadao Orii. 2008. AJMG-A 146A:1286–1295.