Skip to content


Genetics and congenital disorders

This section considers studies of genetic and congenital disorders in children and adolescents.

Page 1 of 3

  1. Content type: Case report

    Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually...

    Authors: Jing Yang, Yu Zhang and Jianhua Zhou

    Citation: BMC Pediatrics 2019 19:145

    Published on:

  2. Content type: Case report

    Gitelman syndrome (GS) is an autosomal recessive disorder and mild variant of classic Bartter syndrome. The latter is caused by defects in the genes CLCNKB and/or CLCNKA (chloride voltage-gated channel Ka and Kb)...

    Authors: Yuanmei Kong, Ke Xu, Ke Yuan, Jianfang Zhu, Weiyue Gu, Li Liang and Chunlin Wang

    Citation: BMC Pediatrics 2019 19:114

    Published on:

  3. Content type: Case report

    Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. ...

    Authors: Kondakova Olga Borisovna, Krasnenko Anna Yurievna, Tsukanov Kirill Yurievich, Klimchuk Olesya Igorevna, Korostin Dmitriy Olegovich, Davidova Anna Igorevna, Batysheva Tatyana Timofeevna, Zhurkova Natalia Vyacheslavovna, Surkova Ekaterina Ivanovna, Shatalov Peter Alekseevich and Ilinsky Valery Vladimirovich

    Citation: BMC Pediatrics 2019 19:98

    Published on:

  4. Content type: Case report

    Klippel-Trénaunay syndrome (KTS) is a rare congenital condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony ...

    Authors: Rawan M. Al-Najjar and Rafael Fonseca

    Citation: BMC Pediatrics 2019 19:95

    Published on:

  5. Content type: Case report

    Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.

    Authors: Irene Baquedano Lobera, Silvia Izquierdo Álvarez and María Jesús Oliván del Cacho

    Citation: BMC Pediatrics 2019 19:92

    Published on:

  6. Content type: Case report

    Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases.

    Authors: Gloria Pelizzo, Mirella Collura, Aurora Puglisi, Maria Pia Pappalardo, Emanuele Agolini, Antonio Novelli, Maria Piccione, Caterina Cacace, Rossana Bussani, Giovanni Corsello and Valeria Calcaterra

    Citation: BMC Pediatrics 2019 19:86

    Published on:

  7. Content type: Case report

    Hemophagocytic Lymphohistiocytosis (HLH) is a rare, complex, life-threatening hyper-inflammatory condition due to over activation of lymphocytes mediated secretory cytokines in the body. It occurs as a primary...

    Authors: Jayesh Sheth, Akash Patel, Raju Shah, Riddhi Bhavsar, Sunil Trivedi and Frenny Sheth

    Citation: BMC Pediatrics 2019 19:73

    Published on:

  8. Content type: Case report

    Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessiv...

    Authors: Li’na Fu, Yan Liu, Yu Chen, Yi Yuan and Wei Wei

    Citation: BMC Pediatrics 2019 19:68

    Published on:

  9. Content type: Case report

    Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the m...

    Authors: Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-Hui Yang, Na Li, Yue-Huang Yang, Xian-Wen Zhang and Xin Tian

    Citation: BMC Pediatrics 2019 19:62

    Published on:

  10. Content type: Case report

    Beta thalassemia (β-thal) is an inherited hemoglobin disorder characterized by reduced synthesis of the hemoglobin that results in microcytic hypochromic anemia. β-Thalassemia intermedia (TI) is a clinical ter...

    Authors: Faten Moassas, Mohamad Sayah Nweder and Hossam Murad

    Citation: BMC Pediatrics 2019 19:61

    Published on:

  11. Content type: Research article

    Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) has high prevalence in East Asia, and has been reported in other parts of the world. NICCD is also the most common form of genetic cholesta...

    Authors: Kuerbanjiang Abuduxikuer, Rui Chen, Zhong-Lin Wang and Jian-She Wang

    Citation: BMC Pediatrics 2019 19:18

    Published on:

  12. Content type: Case report

    Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family ...

    Authors: Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh and Márta Széll

    Citation: BMC Pediatrics 2019 19:16

    Published on:

  13. Content type: Research article

    In French Guiana, pregnant women may be exposed to infectious, environmental, and social risks leading to congenital malformation. The objective of the study was to study mortality rates from congenital malfor...

    Authors: Mathieu Nacher, Véronique Lambert, Anne Favre, Gabriel Carles and Narcisse Elenga

    Citation: BMC Pediatrics 2018 18:393

    Published on:

  14. Content type: Research article

    Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld ...

    Authors: Conor Keogh, Giorgio Pini, Adam H. Dyer, Stefania Bigoni, Pietro DiMarco, Ilaria Gemo, Richard Reilly and Daniela Tropea

    Citation: BMC Pediatrics 2018 18:333

    Published on:

  15. Content type: Research article

    Moldova is ranked as one of the countries in Europe with the lowest income per capita and with a relatively high infant and maternal mortality rate. Information on neurodisabilities in general is limited, and ...

    Authors: Ecaterina Gincota Bufteac, Guro L. Andersen, Vik Torstein and Reidun Jahnsen

    Citation: BMC Pediatrics 2018 18:332

    Published on:

  16. Content type: Case report

    Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert’s syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1...

    Authors: Linda Gailite, Dmitrijs Rots, Ieva Pukite, Gunta Cernevska and Madara Kreile

    Citation: BMC Pediatrics 2018 18:317

    Published on:

  17. Content type: Case report

    Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and het...

    Authors: Daham De Silva, Kathleen A. Williamson, Kavinda Chandimal Dayasiri, Nayani Suraweera, Vinushiya Quinters, Hiranya Abeysekara, Jithangi Wanigasinghe, Deepthi De Silva and Harendra De Silva

    Citation: BMC Pediatrics 2018 18:308

    Published on:

  18. Content type: Case report

    Supernumerary Marker Chromosomes consist in structurally abnormal chromosomes, considered as an extra chromosome in which around 70% occur as a de novo event and about 30% of the cases are mosaic. Tetrasomy 9p...

    Authors: Irene Plaza Pinto, Lysa Bernardes Minasi, Raphael Steckelberg, Claudio Carlos da Silva and Aparecido Divino da Cruz

    Citation: BMC Pediatrics 2018 18:298

    Published on:

  19. Content type: Research article

    Hirschsprung disease (HSCR) is a heterogeneous genetic disorder characterized by absence of ganglion cells along the intestines resulting in functional bowel obstruction. Mutations in neuregulin 1 (NRG1) gene hav...

    Authors: Gunadi, Nova Yuli Prasetyo Budi, Raman Sethi, Aditya Rifqi Fauzi, Alvin Santoso Kalim, Taufik Indrawan, Kristy Iskandar, Akhmad Makhmudi, Indra Adrianto and Lai Poh San

    Citation: BMC Pediatrics 2018 18:292

    Published on:

  20. Content type: Research article

    Conotruncal heart defects (CTDs) are a subgroup of congenital heart defects that are considered to be the most common type of birth defect worldwide. Genetic disturbances in folate metabolism may increase the ...

    Authors: Xike Wang, Haitao Wei, Ying Tian, Yue Wu and Lei Luo

    Citation: BMC Pediatrics 2018 18:287

    Published on:

  21. Content type: Case report

    Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pig...

    Authors: Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, Emna Kerkeni, Fatma-Zohra Chioukh, Sylviane Olschwang, Jean-Pierre Desvignes, Sonia Abdelhak, Valerie Delague, Nicolas Lévy, Kamel Monastiri and Annachiara De Sandre-Giovannoli

    Citation: BMC Pediatrics 2018 18:286

    Published on:

  22. Content type: Case report

    A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 ...

    Authors: Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall and C.I. Edvard Smith

    Citation: BMC Pediatrics 2018 18:285

    Published on:

  23. Content type: Research article

    Variation in genes of the leptinergic-melanocortinergic system influence both body weight and height. Because short normal stature (SNS) is characterized by reduced body height, delayed maturation and leanness...

    Authors: Nikolas Herrfurth, Anna-Lena Volckmar, Triinu Peters, Gunnar Kleinau, Anne Müller, Cigdem Cetindag, Laura Schonnop, Manuel Föcker, Astrid Dempfle, Stefan A. Wudy, Struan F. A. Grant, Thomas Reinehr, Diana L. Cousminer, Johannes Hebebrand, Heike Biebermann and Anke Hinney

    Citation: BMC Pediatrics 2018 18:278

    Published on:

  24. Content type: Case report

    Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of part...

    Authors: Yang Gao, Yu-cong Ma, Yang-hua Ju and Ya-nan Li

    Citation: BMC Pediatrics 2018 18:266

    Published on:

  25. Content type: Case report

    Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 3...

    Authors: Nina Prepeluh, Bojan Korpar, Andreja Zagorac, Boris Zagradišnik, Andreja Golub and Nadja Kokalj Vokač

    Citation: BMC Pediatrics 2018 18:254

    Published on:

  26. Content type: Study protocol

    Of children with hemiplegic cerebral palsy, 75% have impaired somatosensory function, which contributes to learned non-use of the affected upper limb. Currently, motor learning approaches are used to improve u...

    Authors: Belinda McLean, Misty Blakeman, Leeanne Carey, Roslyn Ward, Iona Novak, Jane Valentine, Eve Blair, Susan Taylor, Natasha Bear, Michael Bynevelt, Emma Basc, Stephen Rose, Lee Reid, Kerstin Pannek, Jennifer Angeli, Karen Harpster…

    Citation: BMC Pediatrics 2018 18:252

    Published on:

  27. Content type: Case report

    Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic ...

    Authors: Lisa B. E. Shields, Dennis S. Peppas and Eran Rosenberg

    Citation: BMC Pediatrics 2018 18:231

    Published on:

  28. Content type: Study protocol

    The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The “BabySeq Project” is a randomized trial that explores the medical, behavioral, and economic impacts of integ...

    Authors: Ingrid A. Holm, Pankaj B. Agrawal, Ozge Ceyhan-Birsoy, Kurt D. Christensen, Shawn Fayer, Leslie A. Frankel, Casie A. Genetti, Joel B. Krier, Rebecca C. LaMay, Harvey L. Levy, Amy L. McGuire, Richard B. Parad, Peter J. Park, Stacey Pereira, Heidi L. Rehm, Talia S. Schwartz…

    Citation: BMC Pediatrics 2018 18:225

    Published on:

  29. Content type: Case report

    Autoimmune metaplastic atrophic gastritis is a chronic progressive inflammatory condition. The clinical spectrum includes pernicious anemia, atrophic gastritis, antibodies to parietal cell antigens and intrins...

    Authors: Youyou Luo, Jie Chen, Youhong Fang, Jingan Lou and Jindan Yu

    Citation: BMC Pediatrics 2018 18:191

    Published on:

  30. Content type: Research article

    Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations in the ATM gene cause dysfunction in cell-cycle, apoptosis and V (D) J recombination leading to neurodegeneration, cellular, hu...

    Authors: Alexander Krauthammer, Avishay Lahad, Lior Goldberg, Ifat Sarouk, Batia Weiss, Raz Somech, Michalle Soudack and Itai M. Pessach

    Citation: BMC Pediatrics 2018 18:185

    Published on:

  31. Content type: Case report

    Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. T...

    Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani and N. Mouane

    Citation: BMC Pediatrics 2018 18:184

    Published on:

  32. Content type: Research article

    Cerebral palsy is the most frequent motor disability in childhood, but little is known about its etiology. It has been suggested that cerebral palsy risk may be increased by prenatal thyroid hormone disturbanc...

    Authors: Tanja Gram Petersen, Anne-Marie Nybo Andersen, Peter Uldall, Nigel Paneth, Ulla Feldt-Rasmussen, Mette Christophersen Tollånes and Katrine Strandberg-Larsen

    Citation: BMC Pediatrics 2018 18:181

    Published on:

  33. Content type: Case report

    Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been repor...

    Authors: Noriomi Suzuki, Hideki Mutai, Fuyuki Miya, Tatsuhiko Tsunoda, Hiroshi Terashima, Noriko Morimoto and Tatsuo Matsunaga

    Citation: BMC Pediatrics 2018 18:171

    Published on:

  34. Content type: Case report

    Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4–2% of cases). In order to gain a deeper understanding of this disease at such age, pat...

    Authors: Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini and Giuseppe Maria Milano

    Citation: BMC Pediatrics 2018 18:166

    Published on:

  35. Content type: Research article

    The early stage of embryo development is extremely vulnerable to various teratogenic factors, leading to congenital anomalies. In Ethiopia, a significant number of babies are born with congenital anomalies, bu...

    Authors: Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro and Alemayehu Worku

    Citation: BMC Pediatrics 2018 18:142

    Published on:

  36. Content type: Study protocol

    As part of the COAD-study two home-based bimanual training programs for young children with unilateral Cerebral Palsy (uCP) have been developed, both consisting of a preparation phase and a home-based training...

    Authors: Laura Beckers, Jan van der Burg, Yvonne Janssen-Potten, Eugène Rameckers, Pauline Aarts and Rob Smeets

    Citation: BMC Pediatrics 2018 18:141

    Published on:

  37. Content type: Study protocol

    Home-based training is considered an important intervention in rehabilitation of children with unilateral cerebral palsy. Despite consensus on the value of home-based upper limb training, no evidence-based bes...

    Authors: Marlous Schnackers, Laura Beckers, Yvonne Janssen-Potten, Pauline Aarts, Eugène Rameckers, Jan van der Burg, Imelda de Groot, Rob Smeets, Sander Geurts and Bert Steenbergen

    Citation: BMC Pediatrics 2018 18:139

    Published on:

  38. Content type: Case report

    4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mu...

    Authors: Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati and Madhulika Kabra

    Citation: BMC Pediatrics 2018 18:126

    Published on:

  39. Content type: Research article

    Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identific...

    Authors: Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo and Beom Hee Lee

    Citation: BMC Pediatrics 2018 18:103

    Published on:

  40. Content type: Research article

    There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecula...

    Authors: Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao, Minyan Jiang, Aijing Xu, Yunting Lin and Li Liu

    Citation: BMC Pediatrics 2018 18:101

    Published on:

  41. Content type: Research article

    Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy ...

    Authors: Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires and Têmis Maria Félix

    Citation: BMC Pediatrics 2018 18:95

    Published on:

  42. Content type: Case report

    In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible...

    Authors: Alessandra D’Amico, Federica Mazio, Lorenzo Ugga, Renato Cuocolo, Mario Cirillo, Claudia Santoro, Silverio Perrotta, Daniela Melis and Arturo Brunetti

    Citation: BMC Pediatrics 2018 18:91

    Published on:

  43. Content type: Case report

    Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous backgrou...

    Authors: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau and Abdelaziz Sefiani

    Citation: BMC Pediatrics 2018 18:90

    Published on:

    The Correction to this article has been published in BMC Pediatrics 2018 18:138

2017 Journal Metrics

  • Citation Impact
    2.042 - 2-year Impact Factor
    2.819 - 5-year Impact Factor
    1.266 - Source Normalized Impact per Paper (SNIP)
    1.278 - SCImago Journal Rank (SJR)


    Social Media Impact
    853 Mentions