Clinical Genetics and Dysmorphology: Our Extraordinary Experiences.

Abstract

Background: We have previously described our extensive experiences with clinical genetic and dysmorphology in a plethora of publications. In a previous study, we reported 43 children with uncommon, rare and very rare genetic and hereditary disorders whom were observed during three-year period (2016-2018). In that series, very rare genetic, the case number 104 of Sanjad-Sakati-Richardson-Kirk syndrome in the world, the case number 130 of Townes Brocks syndrome and the case number 170 of Coffin Siris syndrome in the world. The aim of this paper is to describe our 2019 extraordinary new experiences with genetic disorders and dysmorphic syndromes. Material and methods: During the year 2019, 37 patients (25 males and 12 female) with genetic disorders and dysmorphic syndromes and were studied at the Children Teaching Hospital of Baghdad Medical City. Their ages ranged from 2 days to sixteen years. Results: Eight patients had Down syndrome (6 boys and 2 girls), 5 patients had Cornelia De Lang syndrome (4 boys and one girl), 2 male patients had Fragile X-syndrome, 2 male patients with Prader Willi syndrome, two patients had Noonan syndrome (a boy and girl), 2 brothers had Goldberg Shprintzen syndrome. Ten patients each had Facioscapulohumeral muscular dystrophy, Virchow Seckel Syndrome, Mowat Wilson syndrome, Toriello-Carey Syndrome, Ruprecht Majewski-Bosma syndrome, congenital myotonic muscular dystrophy (Congenital dystrophia myotonica), extended Michelin tire baby, Congenital absent radii without thumb aplasia, Dandy walker syndrome and the syndrome of congenital facial palsy and unilateral anotia. In addition, six children patients had newly recognized syndromes (five boys and one girl). Many of the patients in this series were previously described or reported. Conclusion: This one-year Iraqi pioneering experience in the fields of clinical genetics and clinical dysmorphology should herald the end of the Dark Age in these fields in Iraq.