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Journal of Pediatric Genetics

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https://www.readbyqxmd.com/read/29147600/osteoglophonic-dysplasia-phenotypic-and-radiological-clues
#1
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, Kenneth E White, Sheela Nampoothiri
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions are the salient features of this condition. We report a 14-year-old girl with clinical and radiological features consistent with OD. She presented with disproportionate short stature, craniosynostosis, a prominent supraorbital ridge, delayed teeth eruption, hypodontia, and multiple nonossifying bone lesions in the femur, tibia, and fibula...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142771/a-peruvian-child-with-18p-18q-syndrome-and-persistent-microscopic-hematuria
#2
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142770/placental-teratoma-omphalomesenteric-duct-remnant-or-intestinal-organoid-enteroid-differentiation-a-diagnostic-dilemma
#3
Salwa Khedr, Tarek Jazaerly, Stefan Kostadinov
We report an unusual case of fully developed fetal intestinal segment(s) within a nodule on the chorionic plate of the placenta of a 27-year-old female patient at 37 weeks gestation with spontaneous vaginal delivery. Gross examination of the placenta revealed a chorionic plate nodule near the insertion of the umbilical cord, which, upon microscopic evaluation, raised the differential diagnostic possibilities of placental teratoma, vitelline/omphalomesenteric duct anomaly, and intestinal organoid differentiation...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142769/plexiform-neurofibroma-of-clitoris
#4
Dhanya Yesodharan, Bindu Sudarsanan, Annie Jojo, Mohan Abraham, Nisha Bhavani, Hima Mathews, Sheela Nampoothiri
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopathology confirmed the diagnosis. Though rare, plexiform neurofibroma of clitoris should always be considered as a differential diagnosis in children with clitoromegaly before embarking on detailed investigations.
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142768/a-rare-double-aneuploidy-case-down-klinefelter
#5
Sevcan Tug Bozdogan, Atil Bisgin
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142767/could-congenital-insensitivity-to-pain-with-anhidrosis-be-misdiagnosed-as-papillon-lef%C3%A3-vre-syndrome
#6
Mostafa Ibrahim Mostafa, Maha Rashed Abouzaid, Manal Micheal Thomas, Ghada Yousef El-Kamah
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder characterized by early loss of teeth with hyperkeratosis of the palms and soles. Congenital insensitivity to pain with anhidrosis (CIPA) is a disorder of decreased pain sensation, decreased sweating, recurrent infections, and fever. Here, we report a 5-year-old girl born to consanguineous parents with a family history of a similarly affected sibling. The girl presented with early loss of teeth and palmoplantar hyperkeratosis, hence, provisionally diagnosed as PLS...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142766/mutations-in-nsd1-and-nfix-in-three-patients-with-clinical-features-of-sotos-syndrome-and-malan-syndrome
#7
Yongping Lu, Pin Fee Chong, Ryutaro Kira, Toshiyuki Seto, Yumiko Ondo, Keiko Shimojima, Toshiyuki Yamamoto
Mutations in nuclear receptor SET domain-containing protein 1 gene ( NSD1 ) are related to Sotos syndrome, which is characterized by overgrowth, macrocephaly, distinctive features, and neurodevelopmental disabilities. On the other hand, mutations in the nuclear factor I/X gene ( NFIX ) can lead to Malan syndrome, also known as Sotos-like syndrome, or to the Marshall-Smith syndrome. In this study, using next generation sequencing (NGS), we identified de novo mutations in NSD1 and NFIX in three patients with developmental disabilities associated with overgrowth or macrocephaly...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142765/duplication-of-19p13-3-in-11-year-old-male-patient-with-dysmorphic-features-and-intellectual-disability-a-review
#8
Irina Novikova, Paushpala Sen, Ann Manzardo, Merlin G Butler
We present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495-4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142764/determining-nt-probnp-levels-with-diastolic-dysfunction-in-thalassemia-major-patients
#9
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
Beta thalassemia is an autosomal, recessive disorder, characterized by ineffective erythropoiesis. Chronic transfusions and inability of body to eliminate iron lead to an iron overload, thereby causing damage to heart. Natriuretic peptides (NPs) are produced within the heart, which are then released into the circulation in response to ventricular wall stress. We, therefore, aimed to study the relation between ventricular dysfunction and N-terminal pro-B-type natriuretic peptides (NT-proBNPs). We enrolled 105 patients with increased serum ferritin levels and echocardiography was performed...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#10
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29142762/analysis-of-cyp1b1-gene-mutations-in-patients-with-primary-congenital-glaucoma
#11
REVIEW
Leila Chouiter, Sellama Nadifi
Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28798887/attitude-toward-prenatal-testing-and-termination-of-pregnancy-among-health-professionals-and-medical-students-in-saudi-arabia
#12
Nagwa E A Gaboon, Khadijah H Bakur, Alaa Y Edrees, Jumana Y Al-Aama
This study was aimed at assessing the attitude of health care professionals in Jeddah city toward prenatal diagnosis (PND) and termination of pregnancy (TOP). A cross-sectional study was conducted, and the participants completed a self-administered questionnaire. Approximately 82% of participants showed a consistent trend of accepting PND when appropriate, and 47.5% of the respondents were in favor of TOP if the fetus had a severe disease. Compared with men (69.3%), a significantly greater number of women (88%) accepted to have PND...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794916/clinical-variability-in-familial-x-linked-ohdo-syndrome-maat-kievit-brunner-type-with-med12-mutation
#13
Siddaramappa J Patil, Puneeth H Somashekar, Anju Shukla, Satish Siddaiah, Venkatraman Bhat, Katta M Girisha, Pooja N Rao
Ohdo syndrome-Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 ( MED12 ) gene. Here we report a familial OSMKB type with two affected siblings and mutation in MED12 gene.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794915/occurrence-of-synpolydactyly-and-omphalocele-in-a-fetus-with-a-hoxd13-mutation
#14
Periyasamy Radhakrishnan, Shalini S Nayak, Muralidhar V Pai, Anju Shukla, Katta M Girisha
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13 . It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794914/hyperphosphatasia-with-mental-retardation-syndrome-due-to-a-novel-mutation-in-pgap3
#15
Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, Sheena P Kochumon, Stephanie Bielas, Anju Shukla, Katta M Girisha
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794913/wolf-hirschhorn-syndrome-clinical-and-genetic-data-from-a-first-case-diagnosed-in-central-africa
#16
Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Toni Lubala Kasole, Erick Kasamba Ilunga, Bienvenu Yogolelo Asani, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, Hervé Reychler, François Tshilombo Katombe, Koenraad Devriendt
Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic "Greek helmet" appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794912/sensorineural-hearing-loss-in-a-patient-affected-by-congenital-cytomegalovirus-infection-is-it-useful-to-identify-comorbid-pathologies
#17
P Fontana, D Melis, A D'Amico, G Cappuccio, G Auletta, P Vassallo, R Genesio, L Nitsch, W Buffolano
Sensorineural hearing loss (SNHL) is a common defect with a multifactorial etiology. Congenital cytomegalovirus infection (cCMV) is the most common infectious cause, and its early detection allows a prompt pharmacological treatment that can improve hearing prognosis. In a consistent percentage of profound SNHL, genetic causes and/or inner ear malformations are involved; their prompt diagnosis might change therapeutic options. This study reports a case of a 3- year-old female patient with symptomatic cCMV infection who also exhibits developmental delay, dysmorphic facial features, bilateral hearing loss, and cochlear incomplete partition, type 2, in 7q21...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794911/severe-form-of-brachydactyly-type-a1-in-a-child-with-a-c-298g%C3%A2-%C3%A2-a-mutation-in-ihh-gene
#18
Smrithi Salian, Anju Shukla, Gen Nishimura, Katta M Girisha
Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH gene.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#19
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28794909/role-of-the-lf-sine-derived-distal-isl1-enhancer-in-patients-with-classic-bladder-exstrophy
#20
Rong Zhang, Michael Knapp, Franziska Kause, Heiko Reutter, Michael Ludwig
A genome-wide association study and meta-analysis identified ISL1 as the first genome-wide significant susceptibility gene for classic bladder exstrophy (CBE). A short interspersed repetitive element (SINE), first detected in lobe-finned fishes (LF-SINE), was shown to drive Isl1 expression in embryonic mouse genital eminence. Hence, we assumed this enhancer a conclusive target for mutations associated with CBE formation and analyzed a cohort of 200 CBE patients. Although we identified two enhancer variants in five CBE patients, their clinical significance seems unlikely, implying that sequence variants in the ISL1 LF-SINE enhancer are not frequently associated with CBE...
September 2017: Journal of Pediatric Genetics
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