American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 5

Edited By: John C. Carey

Impact Factor: 2.304

ISI Journal Citation Reports © Ranking: 2012: 95/161 (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 (ajmg@hsc.utah.edu).


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.

 

Growth charts of Down syndrome in sicily: Evaluation of 382 children 0–14 years of age

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.

 

Head circumference of children with Down syndrome (0–36 months)

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.

 

Growth manifestations in the Brachmann-de Lange syndrome

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.

 

Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems

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.

 

Neurofibromatosis type 1 growth charts

M. Clementi, S. Milani, I. Mammi, S. Boni, C. Monciotti and R. Tenconi. 1999. AJMG 87:317–323.

 

Growth charts for cri-du-chat syndrome: An international collaborative study

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.

 

Standard growth curves for Japanese patients with Prader-Willi syndrome

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.

 

Head circumference is an independent clinical finding associated with autism

J.H. Miles, L.L. Hadden, T.N. Takahashi and R.E. Hillman. 2000. AJMG 95: 339–350

 

Growth and maturation in Marfan syndrome

Gurkan Erkula, Kevin B. Jones, Paul D. Sponseller, Harry C. Dietz and Reed E. Pyeritz. 2002. AJMG 109:100–115


Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years

Andreas Zankl, Lukas Eberle, Luciano Molinari and Albert Schinzel. 2002. AJMG 111:388–391.

 

Adult height in Noonan syndrome

Jacqueline A. Noonan, Renske Raaijmakers and Bryan Hall. 2003. AJMG-A 123A:68–71.


Weight for age charts for children with achondroplasia

J.E. Hoover-Fong, J. McGready, K.J. Schulze, H. Barnes and C.I. Scott. 2007. AJMG-A 143A: 2227–2235.

 

Growth charts for patients affected with Morquio A disease

Adriana M. Montaño, Shunji Tomatsu, Ana Brusius, Mary Smith and Tadao Orii. 2008. AJMG-A 146A:1286–1295.

SEARCH

SEARCH BY CITATION