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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

    Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the most common inherent causes of cholestatic jaundice in Asian infants. Mutations in the SLC25...

    Authors: Linlin Zhang, Yingying Li, Wenli Shi, Jinshuang Gao, Yuan Tian, Ying Li, Yaqing Guo, Shihong Cui and Xiaoan Zhang

    Citation: BMC Pediatrics 2019 19:348

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  2. Content type: Case report

    DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV (LIG4) gene. DNA ligase IV is an essential protein for the development of a healthy immune s...

    Authors: Sarah Schober, Karin Schilbach, Michaela Doering, Karin M. Cabanillas Stanchi, Ursula Holzer, Patrick Kasteleiner, Jens Schittenhelm, Juergen F. Schaefer, Ingo Mueller, Peter Lang and Rupert Handgretinger

    Citation: BMC Pediatrics 2019 19:346

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  3. Content type: Case report

    Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. I...

    Authors: Hao Liu, Jing-kun Miao, Chao-wen Yu, Ke-xing Wan, Juan Zhang, Zhao-jian Yuan, Jing Yang, Dong-juan Wang, Yan Zeng and Lin Zou

    Citation: BMC Pediatrics 2019 19:344

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  4. Content type: Study protocol

    Congenital heart disease (CHD) is the most prevalent congenital malformation affecting 1 in 100 newborns. While advances in early diagnosis and postnatal management have increased survival in CHD children, wor...

    Authors: I. Ribera, A. Ruiz, O. Sánchez, E. Eixarch, E. Antolín, E. Gómez-Montes, M. Pérez-Cruz, M. Cruz-Lemini, M. Sanz-Cortés, S. Arévalo, Q. Ferrer, E. Vázquez, L. Vega, P. Dolader, A. Montoliu, H. Boix…

    Citation: BMC Pediatrics 2019 19:326

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  5. Content type: Case report

    Scimitar syndrome is a rare form of partial anomalous pulmonary venous drainage associated with pulmonary hypertension and congestive heart failure that may lead to death in the newborn infant. Although it is ...

    Authors: Tamirat Moges Aklilu, Messele Chanie Adhana and Azmeraw Gissila Aboye

    Citation: BMC Pediatrics 2019 19:296

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  6. Content type: Case report

    Fraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of ...

    Authors: Aimé Mbonda, Francky Teddy Endomba, Ulrick S. Kanmounye, Jan René Nkeck and Joel Noutakdie Tochie

    Citation: BMC Pediatrics 2019 19:292

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  7. Content type: Case report

    POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spa...

    Authors: Shuiyan Wu, Zhenjiang Bai, Xingqiang Dong, Daoping Yang, Hongmei Chen, Jun Hua, Libing Zhou and Haitao Lv

    Citation: BMC Pediatrics 2019 19:289

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  8. Content type: Research article

    Marfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, opht...

    Authors: Jessica Warnink-Kavelaars, Anita Beelen, Sarah Dekker, Frans Nollet, Leonie A. Menke and Raoul H. H. Engelbert

    Citation: BMC Pediatrics 2019 19:262

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  9. Content type: Research article

    Cleft lip and palate deformities are considered one of the most common birth defects of the head and neck that pose significant medical, psychosocial and financial burdens on the affected individuals and famil...

    Authors: Konjit K. Bekele, Peter E. Ekanem and Berhanu Meberate

    Citation: BMC Pediatrics 2019 19:254

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  10. Content type: Case report

    X-linked recessive chondrodysplasia punctate (CDPX1) is a rare congenital disorder of bone and cartilage development, caused by a mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. Altho...

    Authors: Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding and Yan Bai

    Citation: BMC Pediatrics 2019 19:250

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  11. Content type: Case report

    This case follows a 14-month-old female, who despite multiple presentations to several physicians, continued to have recurrent febrile episodes with gross motor delay. Her case revealed an often missed diagnos...

    Authors: Tiziana Coppola, Bradford Becken, Heather Van Mater, Marie Theresa McDonald and Gabriela Maradiaga Panayotti

    Citation: BMC Pediatrics 2019 19:245

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  12. Content type: Study protocol

    Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the pro...

    Authors: Donald B. Bailey Jr, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper…

    Citation: BMC Pediatrics 2019 19:238

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  13. Content type: Research article

    During the first three months of pregnancy, the developing embryo may be susceptible to external and internal factors, which may lead to structural and functional congenital anomalies. The main objective of th...

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

    Citation: BMC Pediatrics 2019 19:234

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  14. Content type: Case report

    Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To da...

    Authors: Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang and Xiumin Wang

    Citation: BMC Pediatrics 2019 19:233

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  15. Content type: Study protocol

    Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. Carglumic...

    Authors: Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari and Majid Alfadhel

    Citation: BMC Pediatrics 2019 19:195

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  16. Content type: Research article

    Neutrophils and eosinophils are multifunctional granulocytes derived from common myelocytic-committed progenitor cells. Severe congenital neutropenia 1 (SCN1) caused by ELANE mutations is a rare disease character...

    Authors: Qiao Liu, Martina Sundqvist, Wenyan Li, André Holdfeldt, Liang Zhang, Lena Björkman, Johan Bylund, Claes Dahlgren, Cai Wang, Xiaodong Zhao and Huamei Forsman

    Citation: BMC Pediatrics 2019 19:189

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  17. Content type: Research article

    Insufficient elastin synthesis leads to vascular complications and arterial hypertension in children with Williams-Beuren syndrome. Restoring sufficient quantity of elastin should then result in prevention or ...

    Authors: Behrouz Kassai, Philippe Bouyé, Brigitte Gilbert-Dussardier, François Godart, Jean-Benoit Thambo, Massimiliano Rossi, Pierre Cochat, Pierre Chirossel, Stephane Luong, André Serusclat, Isabelle Canterino, Catherine Mercier, Muriel Rabilloud, Christine Pivot, Fabrice Pirot, Tiphanie Ginhoux…

    Citation: BMC Pediatrics 2019 19:170

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  18. 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

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  19. 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

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    The Correction to this article has been published in BMC Pediatrics 2019 19:324

  20. 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

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  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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

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  39. 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

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  40. 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

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