History Of Consanguinity Research Articles

Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic.

A 5-month-old term infant with delayed milestones referred by a neonatologist was examined at the vision center using a pediatric fundus camera (3nethra Neo, Forus Health, India)[1] during the COVID-19 (coronavirus disease 2019) pandemic in rural west Uttar Pradesh, India. History of consanguinity was present. A cherry-red spot was noticed at the posterior pole in both eyes.[2] The patient was sent back and magnetic resonance imaging and blood tests were done that revealed white matter demyelination in the periventricular area and decreased level of hexosaminidase A and B (quantitative GM2 gangliosidosis 55.79 nmol/mg)[3] suggestive of Tay–Sachs disease. Telemedicine while bridging the health care gap in the rural–urban divide, bridged the gap between the suspicion and the diagnosis, too [Fig. 1].Figure 1: Use of pediatric fundus camera for detection of Tay–Sachs diseaseFinancial support and sponsorship Nil. Conflicts of interest None of the authors have any proprietary interests or conflicts of interest related to this submission.

Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management.

Introduction:Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical features, diagnosis, and management of 14 south Indian children with glutaric aciduria type I.Results:Males predominated the study (57.1%). The mean age of onset of the symptoms was 8.57 ± 3.57 months. The mean age at the time of diagnosis was 35.21 ± 48.31 months. The history of consanguinity was noted in 57.1%. Development was normal prior to the onset of acute crises in nearly three fourths. Acute crises triggered by infection followed by the regression of milestones was the major presenting feature in 10 children (71.4%). Macrocephaly was another prominent feature in an equal number. Bat's wing appearance (fronto temporal atrophy) was present in all children. Nearly 80% had moderate to severe disability in the form of dystonic movement disorder and spastic quadriparesis.Conclusion:Glutaric aciduria type Ihas to be identified and managed early to have a better outcome.

PREVALENCE AND RISK FACTORS FOR OCCURRENCE OF CONGENITAL ANOMALIES IN NEONATES AT HOSPITAL FOR CHILD AND MATERNITY IN MISAN PROVINCE

Congenital disabilities affect a remarkable proportion of neonates and have a significant role in hospital admission, morbidity, and pediatrics mortality. Besides, the long-term morbidity and disability caused by birth defects may have a considerable effect on the development of the child and family and health care systems. In Misan, congenital disabilities are considered a third common cause of neonatal mortality. This study aimed to estimate the prevalence, types, and risk factors of congenital disabilities to have an action plan toward preventing the occurrence of these defects. A cross-sectional study performed in the neonatal care unit in Misan Hospital for Child and Maternity during the period of two years (2018 and 2019). Misan province is located in the South East of Iraq. The information was collected from the files of patients and registration records. Any delivered a live neonate with birth defects was enrolled in this study. These cases were diagnosed depending on history, clinical examination supported by other investigations, and radiographic studies whenever needed. The prevalence rates of congenital disabilities were 7.1/1000 and 6.6/1000 live birth in 2018 and 2019, respectively. Central nervous system involvement was the most typical pattern. Congenital disabilities were more frequent in male, single, and term babies of maternal age 18-35 years living in an urban area with a consanguinity history. Thus, the prevalence rate of congenital disabilities was notably high in Misan. Efforts toward prevention, as well as improving the prenatal diagnosis, would be essential.

Chromosomal Breakage in Fanconi Anemia and Consanguineous Marriages: A Social Dilemma for Developing Countries.

IntroductionA clear picture of the prevalence of Fanconi anemia is not known due to limited studies and research of the subject. This study will detect the frequency of positive chromosomal breakage in pediatric aplastic patients and provide the evidence-based guidelines which help in consideration of appropriate treatment and awareness to the society.MethodsA total of 104 aplastic anemia patients were recruited of age <18 years whose samples were tested for chromosomal breakage with mitomycin C (MMC). History of consanguinity between parents were documented for all the patients referred to us.ResultOut of 104 diagnosed aplastic anemia patients, 35 (33.7%) patients were found to be Fanconi positive. Mean age of all hypoplastic patients for aplastic anemia and Fanconi anemia was 10.7 ± 4.5 and 10.6 ± 3.5, respectively. Male preponderance was found to be higher (64, 61.5%) as compared to females (40, 38.5%) in aplastic patients. The male to female ratio was observed as 2.5:1 in Fanconi patients while 1.3:1 in non-Fanconi aplastic patients. Parental consanguinity was observed in 33 (94.2%) with Fanconi anemia.ConclusionFanconi anemia accounts for significant number of patients with hypoplastic bone marrow, therefore consanguineous marriages should be avoided through mass education in Pakistan.

Rare Presentation of Unilateral Chorio-Retinal Coloboma in a Patient with Bilateral Retinitis Pigmentosa

Inherited Retinal diseases are an incurable cause of visual morbidity occurring in children and young adults. Retinitis pigmentosa is one of the commonest examples of inherited retinal diseases with a prevalence of 1 per 4000 individuals. Colobomas are known to occur in approximately 1 per 10,000 people. Colobomas occur due to defective closure of the embryonic fissure between 6th–7th weeks of development fetal life, and are under diagnosed as they don’t cause symptoms until they involve the disc or macula or both. Retinitis pigmentosa and choroidal coloboma are known to usually exist as two separate entities. The fundus photo shows features of Retinitis pigmentosa, with an isolated chorio-retinal coloboma inferior to disc, in a 30 years old lady, who, presented with decreased peripheral vision and nyctalopia. There was no history of consanguinity. On evaluation she was found to have 6/6 vision bilaterally. Anterior segment was unremarkable in both eyes. Right eye fundus showed features of Retinitis pigmentosa. Humphrey Visual Fields 24-2 tests showed bilateral visual field defects, explaining the loss in peripheral vision. After extensive literature review, such association of unilateral coloboma in a patient with bilateral Retinitis pigmentosa, with no other systemic anomalies is extremely rare, and has been reported only in a few cases (Figure 1).

Consanguinity in patients with mesial temporal lobe epilepsy due to hippocampal sclerosis in a Saudi population.

Objectives:To investigate if there is an association between consanguinity and hippocampal sclerosis (HS) in the Saudi population.Methods:A retrospective case-control study was conducted by assessing the prevalence of consanguinity in patients with pathologically proven HS, who underwent epilepsy surgery at King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia, between January 2004 and December 2015. We reviewed the medical records to extract data, which included; age, gender, duration of epilepsy, history of febrile seizure, family history of epilepsy in a first or second-degree relative, and pathology reports.Results:A total of 120 patients, out of which 40 patients (65% male) having mesial temporal lobe epilepsy due to HS, and 80 controls (56% male) with cryptogenic epilepsy, were identified. Twenty-two patients (53.5%) in the HS group had a history of consanguinity. In the control group, 30 patients (37.5%) had a history of consanguinity. The odds ratio was 2.04 (95% confidence interval = 0.94 - 4.4, p = 0.052). A family history of epilepsy was found in 28% of the patients with HS and 32.5% cryptogenic epilepsy. Only 8 patients (19.5%) with HS reported a history of febrile seizure.Conclusion:Our retrospective case-control study suggests that consanguinity might increase the likelihood of developing HS.

HEMINASAL APLASIA IN A PATIENT WITH CLEFT LIP: A CASE REPORT

<h3>Background</h3> Heminasal aplasia is a rare congenital unilateral malformation of the facial region caused by the failure of embryologic development of a nasal placode. To date, less than 100 cases have been reported globally. <h3>Objective</h3> We report here a case of a 13-year-old female presented for evaluation of a supernumerary tooth with no history of consanguinity or comparable family history of reported findings. The patient had a history of cleft lip repair and cannulation of the right tear duct. The patient exhibited right heminasal aplasia untreated by surgery. <h3>Materials and Methods</h3> Cone beam computed tomography (CBCT) showed complete aplasia of the right maxillary, sphenoid, and ethmoid sinuses. <h3>Results</h3> The right nasal cavity, corresponding nostril, and nasal septum were absent and the right lacrimal duct was only partially formed. Facial asymmetry was noted on an axial view as a depression in the right maxilla. No orbital involvement was noted. <h3>Discussion</h3> The absence of both external and internal ipsilateral structures is inherent to heminasal aplasia. According to Mazzola's classification of frontonasal malformations, this case is classified as an "upper face, half nose" nasal aplasia.

Maternal Fetal Health

Maternal Fetal Health

NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus

Congenital heart defects (CHD) are the most common birth defect and are both clinically and genetically heterogeneous. Truncus arteriosus (TA), characterized by a single arterial vessel arising from both ventricles giving rise to the coronary, pulmonary and systemic arteries, is rare and only responsible for 1% of all CHD. Two consanguineous families with TA were previously identified to have homozygous nonsense variants within the gene NKX2-6. NKX2-6 is a known downstream target of TBX1, an important transcriptional regulator implicated in the cardiac phenotype of 22q11.2 microdeletion syndrome. Herein, we report two siblings with TA presumably caused by compound heterozygous NKX2-6 variants without a history of consanguinity. Two in-house cohorts with conotruncal defects (CTD) were sequenced for variants in NKX2-6 and no additional cases of biallelic NKX2-6 variants were identified. The similar phenotype of these cases, and the clustering of variants that likely result in a truncated protein that disrupts the homeobox domain, suggest that biallelic loss of function for NKX2-6 is a rare genetic etiology for TA in particular, and possibly other types of CHD.

Profile of Congenital Cardiovascular Anomalies among Stillborns at a Tertiary Care Hospital

Introduction: Congenital cardiovascular anomalies refer to anatomic malformation of the heart and great vessels occurring during the intrauterine developmental process. Aim: To determine the pattern of distribution of cardiovascular anomalies through autopsy and to find an association between maternal factors and congenital anomalies, and also an association between autopsy and ultrasound findings. Materials and Methods: This was a descriptive cross-sectional study, which consisted of 50 stillborn foetuses. The foetuses were obtained from the Department of Obstetrics and Gynaecology at a JSS Medical College and Hospital, Mysuru, Karnataka, India. The foetus was fixed in 10% formalin and the autopsies were carried out as per standard foetal autopsy protocol. The cardiovascular anomalies were studied in detail. Data collected were entered in MS Excel 2010 and analysed using Statistical Package for the Social Sciences (SPSS) version 22 to obtain relevant statistics. Descriptive measures like percentages were calculated and the distribution of birth weight, gestational age, maternal age, gravida of the mother, and socioeconomic status of parents among the stillborn foetuses were studied. Fisher’s-exact test was done to find out the association between maternal diabetes and cardiovascular anomalies. The results were interpreted as statistically significant at p&lt;0.05. Results: Out of the total 50 stillborn foetuses studied, cardiovascular anomalies were present in five cases. The ventricular septal defect was the most common anomaly. Other anomalies were an atrial septal defect, tetralogy of fallot, and pulmonary stenosis. The occurrence of cardiovascular anomalies was four times more common in male foetuses than in the female. Each stillborn foetus was classified, based on birth weight, gestational age, maternal age, gravidity of the mother, and socioeconomic status of parents. Maximum foetuses 29 (58%) were having a birth weight between 500-1000 grams. Maximum foetuses 20 (40%) were from the gestational age group of 22-26 weeks. The maximum number of foetuses 24 (48%) were born to mothers in the age group of 26-30 years and 22 (44%) mothers were primigravida. The maximum number of stillborns 25 (50%) belonged to the lower middle class of socioeconomic status according to Kuppuswamy’s socioeconomic scale. History of consanguinity was present in 10 (20%) mothers. Fisher’s-exact test showed a significant association between maternal diabetes and cardiovascular anomalies (p&lt;0.016). The autopsy confirmed the antenatal ultrasound findings in 40 (80%) of the cases. There were significant additional findings observed in 7 (14%) cases and ultrasound diagnosis was completely changed in 3 (6%) cases, after the final autopsy procedure. Conclusion: This study focuses on the importance of concomitant foetal autopsy in providing accurate genetic counseling. It is mandatory to have an autopsy study for all the stillborn foetuses to predict and counsel for safe future pregnancy outcomes. The preventive measures for maternal diabetes should be taken care of to avoid cardiovascular anomalies in the antenatal period and future pregnancies.

Pattern of ocular morbidity among students in a school for visually impaired children in North India

AIMS:The aim of this study was to identify the ocular morbidity pattern among children attending a blind school in North India and comparing the data with similar studies conducted across India and abroad.STUDY DESIGN:This was a cross-sectional observational study.MATERIALS AND METHODS:A cross-sectional study was performed during September 2017 where 94 students attending a blind school were interviewed, and a detailed ocular examination was performed by an ophthalmologist.RESULTS:Sixty-three (67%) children were blind since birth and 29 (30.9%) had absolute blindness. Anatomical site of blindness included retinal disorders in 38 (40.42%), whole globe pathology in 20 (21.40%), optic nerve disorders in 17 (18.09%), corneal diseases in eight (8.51%), and congenital cataract in four (4.26%). A history of consanguinity among parents was reported by 12 (12.8%) students. Blindness was potentially avoidable in 22 (23.4%) children.CONCLUSION:Retinal pathologies were the most common cause for blindness in the present study. The proportion of corneal scarring and congenital cataract is decreasing and majority of cases had unavoidable or incurable blindness. Health education about consanguineous marriages, establishment of pediatric ophthalmology units across the country is essential to eliminate or minimize avoidable blindness among children.

Speech profile of wilsons' disease

Wilson disease (WD) is rare, inherited autosomal recessive disease of copper metabolism resulting in copper toxicity. Studies reported that it may occur due to the mutation of the ATP7B gene. The present study highlights the speech and swallowing issue in the individual with WD. In this case, we are reporting a male of 18 years with no history of consanguinity and family history of any disease or disorder. He was first diagnosed with WD at the age of 16 years with the first sign of gradual deterioration in speech intelligibility and motor functions appearing at the age of 15 years. Present literature lacks the studies related to the speech profile of WD; therefore, we aimed to assess the complete speech battery, which will provide the baseline for further speech and swallowing rehabilitation. Based on complete assessment, the client was diagnosed with mixed dysarthria and swallowing issues at oral preparatory and oral stage of swallowing. The client also had poor handwriting skill. The present case study focuses on speech, swallowing, and communication issues of WD, which will further help in better understanding of the symptoms related to speech, swallowing, and communication as well as help in the rehabilitation process.

Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series

Background: There is a paucity of information on epidemiology, diagnosis, and treatment outcomes of congenital nephrotic syndrome (CNS) in developing countries. Methods: Retrospective (2012–2017) review of case records undertaken across 12 Indian pediatric nephrology centers. Results: Sixty-five children (58% male, median birth weight 2.4 kg [interquartile range (IQR) 2.1–2.86]) were identified with CNS. Nearly half (45%) were preterm with previous history of fetal loss/sibling death in 22% and history of consanguinity in a third. No infective etiology was confirmed. Genetic reports available for 15 (23%) children identified causal mutations in 10 (8 in NPHS1 [1 novel variant], 1 in WT 1 [novel variant], and 1 in PLCE-1 gene). In addition, 1 child was clinically diagnosed as Galloway Mowat syndrome. Next-generation sequencing showed 80% yield and Sanger sequencing 20%. Albumin infusion and angiotensin-converting enzyme inhibitors were used initially in around two-third of cohort, while only 12% of children received indomethacin. Totally, 22 (34%) children were lost to follow-up after initial visit, and among the rest median follow-up was 69 days (IQR 20–180) with 18 (42%) deaths. Eight children showed partial response (including 2 with NPHS1 compound mutation), 1 complete response, and all of them were alive at last follow-up in contrast to 53% mortality among nonresponders, p = 0.004. Conclusion: This largest reported series on CNS from India revealed suboptimal management with poor outcome as well as low number of CNS being subjected to genetic evaluation.

75. A FAMILY OF MATCHED PARENT-CHILD HLA HAPLOTYPES: A CASE STUDY FROM BAHRAIN

Introduction Bone marrow transplant (BMT) is a medical procedure performed to replace the soft, fatty bone marrow that has been damaged or destroyed by disease, infection, or chemotherapy. Most bone marrow transplants are usually performed on patients with certain blood cancers (leukemias) and other blood disorders. Cases of fully matched offspring(s) with parents are very rare and would occur when both parents share at least one haplotype which is commonly seen in several generations of consanguineous marriages ( Hajeer et al. 2012 ). The probability of finding a full parent-child HLA match is higher in consanguineous marriages common in the Middle East, West Asia and North Africa ( Hamamy, 2011 ). We present a case of a unique family in Bahrain with four children (two sons and two daughters). The four siblings and their parents were tested for HLA to check whether they were a match with a family member who needed a bone marrow transplant after being diagnosed with Acute Myeloid Leukemia (AML). Materials and Methods Six DNA samples were extracted from peripheral blood using the Qiagen QIAamp DNA Mini Kit according to manufacturer's instructions (Qiagen, Hilden, Germany). The extracted DNA samples were quantified using the Qubit® 3.0 Fluorometer. A separate PCR protocol was set up for each locus to be amplified and for each individual sample to be tested. Successful amplicons were confirmed by a 1% agarose gel electrophoresis. Sequencing reactions were run with group specific and locus specific primers using the Conexio Genomics SBT Resolver kits. The sequenced products were purified using the ethanol precipitation method and capillary electrophoresis using the ABI 3130XL Genetic Analyzer (Applied Biosystems). The data was analysed using the CareDx Pty Ltd's ASSIGN™ SBT software. Results The results showed that of the four children both sons were a 100% match with the mother, while one of the two daughters was a 100% match with the father. Conclusion This case presents a unique situation where parents and children have fully matched HLA alleles due to a strong family history of consanguinity. This is the first case reported in Bahrain where children were found to be a 100% HLA-matched with their parents. Further studies are suggested to arrive to a broader conclusion to understand whether this is an isolated case or more of such cases would be found to be a trend in the Bahraini population.

Whole-Exome Sequencing Identifies Novel Heterozygous Mutation in RAF1 in Family With Neonatal Testicular Torsion

ObjectiveTo investigate a genetic cause of neonatal testicular torsion in 2 siblings and paternal cryptorchidism in a Caucasian family without history of consanguinity, we performed whole exome sequencing. Patients and MethodsTargeted exon/whole-exome sequencing was performed in 2 siblings with testicular torsion. Potentially pathogenic variants passing filter criteria were validated with Sanger sequencing of parents to confirm familial segregation. Additionally, immunofluorescence staining for Raf-1, pERK (downstream from Raf-1) and c-Kit was performed on a testicular biopsy on the preserved testicle from the proband brother and compared with testicular biopsies from fertile men. ResultsA potentially pathogenic variant was identified in the RAF1 gene (serine/threonine-protein kinase) in exon 7 of chromosome 3: 12645786 G > C; both brothers and father were heterozygous for the variant, while the mother was negative for this mutation. This mutation in exon 7 (chr3:) of RAF1 is predicted to be damaging as a highly conserved splicing site is disrupted. The mutation is not found in the single nucleotide polymorphism database, the 1000 Genomes Project, ExACT, or esp6500. Immunofluorescence of the testis biopsy from one of the brothers demonstrated markedly decreased expression of Raf-1 as well as pERK but similar expression of c-kit when compared with fertile controls. ConclusionWe identified a novel nonsynonymous mutation in RAF1 in n Caucasian family with testicular torsion and cryptorchidism. We present the first human evidence that the RAF/MEK/ERK pathway is associated with testicular descent.

Pachydermoperiostosis (Touraine\u2013Solente\u2013Gole syndrome): a case report

BackgroundPachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly. Clinical presentations of PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly.Case presentationA Mongolian male, aged 19 years, resident of a hilly district of Nepal, with history of consanguinity, presented to our outpatient department with chief complaints of pain and swelling in both hands and feet for 6 years. The pain was insidious in onset, throbbing in nature, and not relieved by over-the-counter medications. The patient also complained of profuse sweating, progressive enlargement of hands and feet, and gradual coarsening of facial features. On examination there were marked skin folds in the forehead, face, and eyelids. Clubbing and swelling of bilateral knee joints and ankle joints was also evident. He was subsequently investigated extensively for acromegaly. Insulin-like growth factor-1 level and oral glucose tolerance test were normal. Radiography of various bones showed periosteal hypertrophy with subperiosteal bone formation.ConclusionsPDP should be considered as a differential diagnosis when a patient presents with hypertrophic osteoarthropathy and acromegalic features.

A preliminary report on newborn screening of inborn metabolic disorders

Background: Newborn screening (NBS) for metabolic and genetic disorders, which can be treated or modified if detected early in life, can help to prevent potentially disastrous consequences and save a precious life. However, there is no nationwide consensus on neonatal screening in India; hence, several treatable cases may be missed. Objective: The objective of this study was to detect the prevalence of selected metabolic disorders among neonates and to diagnose them as early as possible to minimize the morbidity and mortality. Materials and Methods: This prospective study included all live newborns delivered during period 2015–2016 in a tertiary care neonatal unit in Kolkata. On the 3rd day of life, newborns were subjected to detailed history, with special emphasis on family history and history of consanguinity. This was followed by thorough clinical examination and metabolic screening for congenital hypothyroidism (CH), G6PD deficiency, phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), galactosemia, and cystic fibrosis with heel prick blood sample collected on blotting paper. Results: Of 1373 babies, four babies were screened positive of CH, G6PD deficiency, CAH, and PKU, respectively. However, confirmatory test for PKU came out to be negative. Conclusion: NBS can be an important preventive public health program. Application of tandem mass spectrometry to newborn screening for metabolic disorders offers rapid results and covers a wide range of disorders. However, the screen-positive tests need to be confirmed by actual enzyme assay (for deficiency), chromatography/mass spectroscopy analysis, or DNA testing.

Added Value of Fetal Magnetic Resonance Imaging in Diagnosis of Central Nervous System Congenital Anomalies in Egyptian Population

CNS anomalies are the second most frequent type of congenital anomalies. It is important to diagnose them as early as possible due to poor outcome. The aim of the study is to assess the role of magnetic resonance imaging in evaluation of congenital anomalies of central nervous system. This study included 80 pregnant women with suspected congenital CNS anomalies. All patients had been examined by 2D ultrasound and MRI. The majority of anomalies in the current study were anencephaly, hydrocephalus with aqueductal stenosis and Chiari malformation . Twenty percentage of brain anomalies was associated with meningioceles. A significant difference was detected in both aqueductal stenosis and dandy walker as regards history of consanguinity. The results were compared with post natal clinical assessment and MRI. It is concluded that fetal MRI is becoming an increasingly important tool in diagnosis of brain abnormalities suspected on the basis of family history or fetal sonography (with equivocal data), with continuing improvements in technology for better improvement of postnatal outcome. BPD = Biparietal diameter, CNS = Central nervous system, EFW = Expected fetal body weight, FL = Femur length, FOV = Field of view, MRI = Magnetic resonance imaging, N= Number, SD = Standard deviation, Ssfp= Steady-state free percession, ST= Slice thickness, TE =time of echo, TR=time of repetition, T2WI=T2 weighted image, US=ultrasound.

Dysencephalia Splanchnocystica, AKA Meckel–Gruber syndrome: A Systematic Review and the First Case Report from Iraq

Background:&#x0D; &#x0D; Meckel-Gruber syndrome is categorised under the broad &amp;ldquo;umbrella&amp;rdquo; of syndromic ciliopathies. There is a shortage of epidemiological studies surveying the region of the Middle East and Arabic countries.&#x0D; &#x0D; Materials and methods:&#x0D; &#x0D; The review of the literature was conducted systematically, from the 1st to the 9th of June 2018, across medical and paramedical electronic databases including PubMed-NCBI, the Cochrane Library, and Elsevier database via predefined Medical Subject Headings (MeSH) terms. The words used included all possible combinations of synonyms for Meckel syndrome, Meckel-Gruber syndrome, Gruber syndrome, Dysencephalia Splanchnocystica, ciliopathies, and syndromic ciliopathies.&#x0D; &#x0D; Results:&#x0D; &#x0D; The total number of hits for all databases was 2089963 distributed as 2085668 (NCBI-PubMed), 1052 (The Cochrane Library), and 3243 (Elsevier). The most informative combination of keywords was [(Ciliopathies AND &amp;ldquo;Meckel syndrome type-1&amp;rdquo;]. The total number of reference material was restricted to twenty-six. The level-of-evidence of our study is level-2b, by the categorisation scheme adopted by the Oxford Centre for Evidence-based Medicine. Our case report represents the first documented case in literature from Iraq. The diagnosis was based on the history of consanguinity of the parents, prior history of induced abortion of a malformed male fetus, and the diagnostic clinical triad postnatally of occipital encephalocele, post-axial polydactyly, and polycystic kidneys manifested as bilateral abdominal distension primarily affecting the loin.&#x0D; &#x0D; Conclusion:&#x0D; &#x0D; Future cases from Iraq should be investigated, via ecological and aggregate analytics, in correlation with chemical and radiological exposure following the American invasion of Iraq.

Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley.

Purpose:To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital.Materials and Methods:This retrospective study included 73 cases of DSD, evaluated and managed at Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 10 years from September 2008 to August 2018.Results:Twenty-nine patients (39.7%) had 46 XY DSD and twenty-nine patients (39.7%) had 46 XX. Sex chromosome DSD was diagnosed in 15 (20.5%) patients. Of 29 patients with 46 XY DSD, 17 (58.6%) had 5α-reductase type-2 deficiency (5α-RD) and 6 (20.7%) had complete androgen insensitivity syndrome. In our patients with 5α-RD, the history of consanguinity was documented in nine (52.9%) patients. Two patients had testosterone biosynthetic defect and one patient had partial androgen insensitivity syndrome. Of 29 patients with 46 XX DSD, 16 (55.1%) had congenital adrenal hyperplasia (CAH). Of 15 patients with sex chromosome DSD, 7 patients had Turner's syndrome, 7 had Klinefelter's syndrome, and 1 patient had mixed gonadal dysgenesis.Conclusion:In our study, equal number of patients had 46 XY DSD and 46 XX DSD. We are for the first time reporting from India that the most common cause of 46 XY DSD is 5α-RD, whereas CAH is the most common cause of 46 XX DSD as reported previously.