PURPOSE OF REVIEW: Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and genetic syndromes. This review presents recent developments in genetic syndromes and their related dysmorphology in diverse populations. RECENT FINDINGS: Clinical findings in patients with genetic syndromes differ in their heterogeneity across different population groups. Some genetic syndromes have variable features in different ethnicities, in part due to specific background exam characteristics such as flat facial profiles or nasal differences; however, other genetic syndromes are similar across different ethnicities. Facial analysis technology is accurate in diagnosing genetic syndromes in populations around the world and is a powerful adjunct to conventional clinical examination. This accuracy also reinforces the concept that genetic syndromes can and should be diagnosed in any ethnicity. SUMMARY: The increasing amount of data from studies on genetic syndromes in diverse populations is significantly improving our knowledge and approach to dysmorphic patients from various ethnic backgrounds. Optimal management of genetic syndromes requires early diagnosis, including in developing countries.
PURPOSE OF REVIEW: Dysmorphic features result from errors in morphogenesis frequently associated with genetic syndromes. Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of humancongenital anomalies and genetic syndromes. This review presents recent developments in genetic syndromes and their related dysmorphology in diverse populations. RECENT FINDINGS: Clinical findings in patients with genetic syndromes differ in their heterogeneity across different population groups. Some genetic syndromes have variable features in different ethnicities, in part due to specific background exam characteristics such as flat facial profiles or nasal differences; however, other genetic syndromes are similar across different ethnicities. Facial analysis technology is accurate in diagnosing genetic syndromes in populations around the world and is a powerful adjunct to conventional clinical examination. This accuracy also reinforces the concept that genetic syndromes can and should be diagnosed in any ethnicity. SUMMARY: The increasing amount of data from studies on genetic syndromes in diverse populations is significantly improving our knowledge and approach to dysmorphicpatients from various ethnic backgrounds. Optimal management of genetic syndromes requires early diagnosis, including in developing countries.
Authors: Paul Kruszka; Yonit A Addissie; Cedrik Tekendo-Ngongang; Kelly L Jones; Sarah K Savage; Neerja Gupta; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Teresa Aravena; Sheela Nampoothiri; Dhanya Yesodharan; Katta M Girisha; Siddaramappa Jagdish Patil; Saumya Shekhar Jamuar; Jasmine Chew-Yin Goh; Agustini Utari; Nydia Sihombing; Rupesh Mishra; Neer Shoba Chitrakar; Brenda C Iriele; Ezana Lulseged; Andre Megarbane; Annette Uwineza; Elizabeth Eberechi Oyenusi; Oluwarotimi Bolaji Olopade; Olufemi Adetola Fasanmade; Milagros M Duenas-Roque; Meow-Keong Thong; Joanna Y L Tung; Gary T K Mok; Nicole Fleischer; Godfrey M Rwegerera; María Beatriz de Herreros; Johnathan Watts; Karen Fieggen; Victoria Huckstadt; Angélica Moresco; María Gabriela Obregon; Dalia Farouk Hussen; Neveen A Ashaat; Engy A Ashaat; Brian H Y Chung; Eben Badoe; Sultana M H Faradz; Mona O El Ruby; Vorasuk Shotelersuk; Ambroise Wonkam; Ekanem Nsikak Ekure; Shubha R Phadke; Antonio Richieri-Costa; Maximilian Muenke Journal: Am J Med Genet A Date: 2019-12-19 Impact factor: 2.802
Authors: Sarah E Sheppard; Ian M Campbell; Margaret H Harr; Nina Gold; Dong Li; Hans T Bjornsson; Julie S Cohen; Jill A Fahrner; Ali Fatemi; Jacqueline R Harris; Catherine Nowak; Cathy A Stevens; Katheryn Grand; Margaret Au; John M Graham; Pedro A Sanchez-Lara; Miguel Del Campo; Marilyn C Jones; Omar Abdul-Rahman; Fowzan S Alkuraya; Jennifer A Bassetti; Katherine Bergstrom; Elizabeth Bhoj; Sarah Dugan; Julie D Kaplan; Nada Derar; Karen W Gripp; Natalie Hauser; A Micheil Innes; Beth Keena; Neslida Kodra; Rebecca Miller; Beverly Nelson; Malgorzata J Nowaczyk; Zuhair Rahbeeni; Shay Ben-Shachar; Joseph T Shieh; Anne Slavotinek; Andrew K Sobering; Mary-Alice Abbott; Dawn C Allain; Louise Amlie-Wolf; Ping Yee Billie Au; Emma Bedoukian; Geoffrey Beek; James Barry; Janet Berg; Jonathan A Bernstein; Cheryl Cytrynbaum; Brian Hon-Yin Chung; Sarah Donoghue; Naghmeh Dorrani; Alison Eaton; Josue A Flores-Daboub; Holly Dubbs; Carolyn A Felix; Chin-To Fong; Jasmine Lee Fong Fung; Balram Gangaram; Amy Goldstein; Rotem Greenberg; Thoa K Ha; Joseph Hersh; Kosuke Izumi; Staci Kallish; Elijah Kravets; Pui-Yan Kwok; Rebekah K Jobling; Amy E Knight Johnson; Jessica Kushner; Bo Hoon Lee; Brooke Levin; Kristin Lindstrom; Kandamurugu Manickam; Rebecca Mardach; Elizabeth McCormick; D Ross McLeod; Frank D Mentch; Kelly Minks; Colleen Muraresku; Stanley F Nelson; Patrizia Porazzi; Pavel N Pichurin; Nina N Powell-Hamilton; Zoe Powis; Alyssa Ritter; Caleb Rogers; Luis Rohena; Carey Ronspies; Audrey Schroeder; Zornitza Stark; Lois Starr; Joan Stoler; Pim Suwannarat; Milen Velinov; Rosanna Weksberg; Yael Wilnai; Neda Zadeh; Dina J Zand; Marni J Falk; Hakon Hakonarson; Elaine H Zackai; Fabiola Quintero-Rivera Journal: Am J Med Genet A Date: 2021-03-30 Impact factor: 2.578