Uncommon and Rare Pediatric Syndromes Associated with Surgical Conditions in Iraqi Children.

Abstract

Background: Many uncommon and rare pediatric clinical syndromes including genetic and dysmorphic disorders are known to be associated with surgical conditions and require various types of surgical interventions. Little is known about the pattern of surgical conditions associated with the uncommon and rare childhood syndromes in Iraq. The aim of this paper to describe our experience with uncommon and rare childhood syndromes associated with surgical conditions observed in two tertiary referral centers in Baghdad. Patients and methods: Twenty one unrelated patients (10 males and 11 females) with uncommon and rare syndromes associated with surgical conditions were observed. The patient’s age ranged from 3 days to 18 years. The patients were observed during the period from 1994 to December 2019 in two tertiary referral teaching hospitals (University Hospital in Al-Kadhimiyia which was called later “Al-Kadhimiyia Teaching Hospital” and the Children Teaching Hospital of Baghdad Medical City). Results: The twenty one patients had seventeen uncommon and rare syndromes associated with surgical conditions including ocular conditions (Cataracts and glaucoma), congenital heart disease, gastrointestinal surgical conditions (Imperforated anus, congenital primary cricopharyngeal achalasia, omphalocele and neonatal Hirschsprung disease), urologic surgical condition (Undescended testes) and orthopedic surgical conditions. (Hip dislocation and multiple fractures), gynecologic ocular conditions (Hematocolpos which is caused by hemivaginal obstruction) and surgical conditions needing plastic surgeries. Conclusion: This unique series of pediatric syndromes associated with surgical conditions included a new Iraqi variant of oculocerebrorenal syndrome, the cases number 35 and 36 of cutis laxa type II (Debre type) in the literature, the case number 52 of Ruprecht Majewski-Bosma syndrome in literature, the 58th case of Toriello-Carey syndrome in the literature, the case number 130 of Townes Brocks syndrome, the twenty eighth case of congenital Chevalier Jackson in the literature, the thirty fourth case of Goldberg Shprintzen syndrome and the fourth patient in the literature with the syndrome of microtia/anotia syndrome and congenital facial palsy without other abnormalities.

Developing Clinical Genetics Diagnostic Skills: Van Der Hoeve-Waardenburg Syndrome

“…We have previously published our pioneering huge and unique experiences with clinical genetics and dysmorphology in a plethora of publications. We have previously described a large number of rare disorders in Iraq [6][7][8][9][10][11][12][13][14], and we have also helped doctors in the diagnosis and publication of rare conditions observed in other countries [15]. The aim of this papers is to help practicing physicians in developing the diagnostic skills in the field of clinical syndromes by briefly reviewing a rare syndrome that have not been reported in Iraq, but it is associated with unique clinical characteristics that allow doctors who see the syndrome for the first time, capable of making an early diagnosis rather easily, by knowing few information about the syndrome.…”

Advancing clinical genetics diagnostic skills: Cherubism

“…There are a tremendous number of rare genetic conditions syndromes, and it is difficult for most doctors to develop adequate knowledge that help them in making an early useful diagnosis for many of these conditions they may encounter .We have previously reported our extensive experiences with the diagnosis of rare genetics disorders in a plethora of publications. We have previously reported a large number of rare conditions in Iraq [19][20][21][22][23][24][25][26][27], and we have also helped physicians in the diagnosis and publication of rare syndromes observed in other countries [28]. The aim of this papers is to help physicians in advancing the diagnostic skills in the field of clinical genetics by reviewing briefly a rare syndrome that have not been reported in Iraq, but it is associated with certain clinical characteristics that allow an early diagnosis when seen for the first time.…”

Advancing clinical dysmorphology diagnostic skills: Weaver syndrome

“…We have previously described our pioneering extensive experiences with clinical genetics and dysmorphology in a plethora of publications. We have previously reported a large number of rare conditions in Iraq [6][7][8][9][10][11][12][13][14], and we have also helped physicians in the diagnosis and publication of rare syndromes observed in other countries [15]. The aim of this papers is to help clinicians in advancing the diagnostic skills in the field of clinical syndromes by reviewing briefly a rare syndrome that have not been reported in Iraq, but it is associated with certain clinical characteristics that allow clinicians who see the syndrome for the first time, capable of making an easy diagnosis by knowing few information about the condition.…”