DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

eFirst

Publication Date: 08 July 2020

Case Report

Ramos-Lopes, Joana; Ribeiro, Joana; Laço, Mário; Alves, Cristina; Matos, Anabela; Costa, Cármen: A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement

Case Report

Thakur, Seema; Kumar, Manisha; Malhotra, Supriya; Paliwal, Preeti; Thareja, Vandana; Sahi, Gaurika: Severe Polyhydramnios with Consistent Fetal Full Bladder: A Novel Sign of Antenatal Bartter's Disease

Original Article

Nerakh, Gayatri; Ranganath, Prajnya; Murugan, Sakthivel: Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum

Publication Date: 30 June 2020

Original Article

Boontan, Naiyana; Rojnueangnit, Kitiwan: Growth Patterns of Thai Children with Down Syndrome from Birth to 5 Years
Supplementary Material

Publication Date: 19 June 2020

Case Report

Fontana, Paolo; Bernardini, Laura; Lombardi, Cinzia; Giuffrida, Maria Grazia; Ciavarella, Maria; Capalbo, Anna; Maioli, Marianna; Scarano, Francesca; Cantalupo, Giuseppina; Falco, Mariateresa; Scarano, Gioacchino; Lonardo, Fortunato: De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies

Case Report

Karba, Brendan E.; Lemay, Jean-Francois; McLeod, Scott A.: The Clinical Dilemma of Autism Spectrum Disorder Diagnosis in a Child with 9p Deletion

Publication Date: 17 June 2020

Original Article

Diniz, Bruna Lixinski; Santos, Andressa Schneiders; Glaeser, Andressa Barreto; Guaraná, Bruna Baierle; Lorea, Cláudia Fernandes; Josahkian, Juliana Alves; Huber, Janaína; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil

Original Article

Tangshewinsirikul, Chayada; Dulyaphat, Wirada; Tim-Aroon, Thipwimol; Parinayok, Rachanee; Chareonsirisuthigul, Takol; Korkiatsakul, Veerawat; Waisayarat, Jariya; Sirisreetreerux, Pokket; Tingthanatikul, Yada; Wattanasirichaigoon, Duangrurdee: Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

Publication Date: 10 June 2020

Original Article

Inandiklioğlu, Nihal; Yaşar, Adem: Association between rs1421085 and rs9939609 Polymorphisms of Fat Mass and Obesity-Associated Gene with High-Density Lipoprotein Cholesterol and Triglyceride in Obese Turkish Children and Adolescents

Publication Date: 28 May 2020

Case Report

Kalmár, Tibor; Szakszon, Katalin; Maróti, Zoltán; Zimmermann, Alíz; Máté, Adrienn; Zombor, Melinda; Bereczki, Csaba; Sztriha, László: A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Publication Date: 27 May 2020

Review Article

Glaeser, Andressa Barreto; Diniz, Bruna Lixinski; Deconte, Desirée; Santos, Andressa Schneiders; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

Publication Date: 22 May 2020

Original Article

Ganetsos, Athena; Farrelly, Ellyn; Magoulas, Pilar; Stevenson, David A.: Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences

Publication Date: 12 May 2020

Case Report

Marcilla Vázquez, Carlos; Carrascosa Romero, María del Carmen; Martínez Gutiérrez, Andrés; Baquero Cano, María; Alfaro Ponce, Blanca; Dabad Moreno, María Jesús: A Novel c.968C > T homozygous Mutation in the Polynucleotide Kinase 3′ − Phosphatase Gene Related to the Syndrome of Microcephaly, Seizures, and Developmental Delay

Case Report

Vyas, Varuna; K., Deepthi; Singh, Kuldeep: A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation

Publication Date: 07 May 2020

Review Article

Poling, Mikaela I.; Dufresne, Craig R.; McCormick, Rodger J.: Identification and Recent Approaches for Evaluation and Management of Rehabilitation Concerns for Patients with Freeman–Burian Syndrome: Principles for Global Treatment

Publication Date: 29 April 2020

Case Report

Gogou, Maria; Pavlou, Evangelos; Kimiskidis, Vasilios; Kouskouras, Konstantinos; Pavlidou, Efterpi; Papadopoulos, Theophanis; Haidopoulou, Katerina; Fidani, Liana: Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees

Publication Date: 25 April 2020

Case Report

Kiss, Edgar E.; Chandran, Neethu; Alex, Gijo; Olomu, Patrick: Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery

Case Report

Marji, Fady P.; Hall, Jennifer A.; Anstadt, Erin; Madan-Khetarpal, Suneeta; Goldstein, Jesse A.; Losee, Joseph E.: A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis

Publication Date: 23 April 2020

Case Report

Sen, Kuntal; Castillo Pinto, Carlos; Gropman, Andrea L.: Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency

Original Article

Pavone, Piero; Pappalardo, Xena Giada; Praticò, Andrea Domenico; Polizzi, Agata; Ruggieri, Martino; Piccione, Maria; Corsello, Giovanni; Falsaperla, Raffaele: Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time Hashimoto's Thyroiditis

Publication Date: 21 April 2020

Case Report

Afifi, Hanan H.; El-Kamah, Ghada Y.; Kamel, Alaa K.; Abd Allah, Sally G.; Hammad, Sayda; Sayed-Ahmed, Mohammed M.; Hussein, Shymaa H.; Mohamed, Amal M.: Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Case Report

García-Aznar, José María; Ramírez, Noelia; De Uña, David; Santiago, Elisa; Monserrat, Lorenzo: Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1
Supplementary Material

Publication Date: 31 March 2020

Case Report

Elmas, Muhsin; Gogus, Basak; Kılıçarslan, Furkan; Bukulmez, Aysegul; Solak, Mustafa: Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing

Case Report

Kops, Samantha A.; Kylat, Ranjit I.; Bhatia, Shanti; Seckeler, Michael D.; Barber, Brent J.; Bader, Mohammad Y.: Genetic Characterization of a Model Ciliopathy: Bardet–Biedl's Syndrome

Publication Date: 09 March 2020

Case Report

Iezzi, Maria Laura; Varriale, Gaia; Zagaroli, Luca; Lasorella, Stefania; Greco, Marco; Iapadre, Giulia; Verrotti, Alberto: A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Case Report

Lallar, Meenakshi; Arora, Veronica; Saxena, Renu; Puri, Ratna Dua; Verma, Ishwar Chander: Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss

Publication Date: 28 February 2020

Case Report

Deconte, Desirée; Correia, Elisa Pacheco Estima; Haubert, Géssica; de Souza, Vinicius; Correia, Jamile Dutra; Maahs, Marcia Angelica Peter; Zen, Paulo Ricardo Gazzola; Fiegenbaum, Marilu; Rosa, Rafael Fabiano Machado: Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

Publication Date: 17 February 2020

Case Report

Bruni, Valentina; Scozzafava, Cristina; Gnazzo, Maria; Parisi, Francesca; Sestito, Simona; Pensabene, Licia; Novelli, Antonio; Concolino, Daniela: Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

Case Report

Mehta, Sonia D.; Leavitt, Wendy L.; Alex, Gijo; Saynhalath, Rita; Kiss, Edgar: Endotracheal Intubation Using Alfentanil in a Pediatric Patient with a Mitochondrial Myopathy and Gastroparesis

Original Article

Civan, Hasret A.; Seyhan, Serhat: Molecular Heterogeneity in Cystic Fibrosis

Publication Date: 12 February 2020

Case Report

Diniz, Bruna Lixinski; Glaeser, Andressa Barreto; Deconte, Desirée; Guaraná, Bruna Baierle; Rosa, Rafael Fabiano Machado; Zen, Paulo Ricardo Gazzola: Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case

Publication Date: 03 February 2020

Original Article

Al-Haggar, Mohammad; Osman, Engy; Eid, Abdel-Rahman; Barakat, Tarek; El-Morsi, Samar: Screening for the Most Common Mutations of CFTR Gene among Egyptian Children with Difficult-to-Treat Asthma

Publication Date: 22 January 2020

Case Report

Teles-Silva, Cláudia; Martins, Francisca; Costa, Sandra; Soares, Paulo; Rocha, Gustavo; Flor-de-Lima, Filipa; Pinto, Helena; Ramalho, Carla; Oliveira, Renata; Brandão, Otília; Guimarães, Hercília: Renal Dysplasia and Progressive Renal Failure in a Newborn with Interstitial Chromosome 4 Deletion 4q25-28.3: A New Phenotype?

Publication Date: 21 January 2020

Case Report

You, Jong In; Bang, Seul Ki; Yu, Seung-Young; Jin, Kyung Hyun: Oral-Facial-Digital Syndrome Type IX with Subfoveal Drusenoid Deposit

Publication Date: 20 January 2020

Case Report

Bekdas, Mervan; Can, Guray; Eroz, Recep; Duzcu, Selma Erdogan: Combination of Novel c.3484G> T/p.Glu162Ter Variant in ABCB11 and c.208G> A/p.Asp70Asn Variant in ATP8B1 Are Associated with Severe Symptoms in Progressive Family Intrahepatic Cholestasis

Case Report

Williams, Jason L.; McDonald, Marie T.; Seifert, Bryce A.; Deak, Kristen L.; Rehder, Catherine W.; Campbell, Michael J.: An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

Publication Date: 10 January 2020

Case Report

Oyetunji, Aderonke; Butler, Merlin G.: 22q11.2 Microduplications: Two Clinical Reports Compared with Similar Cases from the Literature

Publication Date: 06 January 2020

Case Report

Abarca-Barriga, Hugo H.; Trubnykova, Milana; Chavesta-Velásquez, Félix; Barletta-Carrillo, Claudia; Ordoñez-Linares, Marco; Rondón-Abuhadba, Andrea: Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

Case Report

Akkus, Nejmiye; Kilic, Betul; Cubuk, Pelin Ozyavuz: Smith–Magenis Syndrome: Clues in the Clinic

Case Report

Al Shibli, Naema; Al-Maawali, Almundher; Elmanzalawy, Alaa; Al-Nabhani, Maryam; Koul, Roshan; Gabr, Ahlam; Al Murshedi, Fathiya: A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum

Case Report

Deconte, Desirée; Kreusch, Tulia Cristina; Salvaro, Bruna Pavan; Perin, Wagner Fernando; Ferreira, Maria Angélica Tosi; Kopacek, Cristiane; da Rosa, Ernani Bohrer; Heringer, Jane Iândora; Ligabue-Braun, Rodrigo; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado; Fiegenbaum, Marilu: Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2

Publication Date: 03 January 2020

Case Report

Vendramini-Pittoli, Siulan; Candido-Souza, Rosana Maria; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho; FitzPatrick, David R.; Guion-Almeida, Maria Leine; Richieri-Costa, Antonio: Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Publication Date: 24 December 2019

Case Report

Mir, Ali; Qahtani, Mohammed; Bashir, Shahid: GRIN2A-Related Severe Epileptic Encephalopathy Treated with Memantine: An Example of Precision Medicine

Publication Date: 04 December 2019

Erratum

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Erratum: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Publication Date: 21 November 2019

Clinical Report

Eid, Maha M.; Eid, Ola M.; Abdel-Hadi, Sawsan; Hassib, Nehal; Madian, Abdelrahman; Afifi, Hanan H.; Abdel-Salam, Ghada M.H.: Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients

Publication Date: 18 November 2019

Case Report

Jia, Yue; Yue, Changjun; Bradford, Kathryn; Qing, Xin; Panosyan, Eduard H.; Gotesman, Moran: Novel ELANE Gene Mutation in a Newborn with Severe Congenital Neutropenia: Case Report and Literature Review

Publication Date: 15 November 2019

Case Report

Alfurayh, Nuha; Alsaif, Fahad; Alballa, Nouf; Zeitouni, Leena; Ramzan, Khushnooda; Imtiaz, Faiqa; Alakeel, Abdullah: LEOPARD Syndrome with PTPN11 Gene Mutation in Three Family Members Presenting with Different Phenotypes

Publication Date: 11 November 2019

Case Report

Sharma, Sonia: Failure to Thrive, Jaundice, and Polyuria in Early Infancy: Common Presentation with an Uncommon Lethal Etiology

Publication Date: 06 November 2019

Case Report

Güzel Erdal, Gülbahar; Balkan, Mahmut: Turner Syndrome with Isochromosome Xq

Publication Date: 04 November 2019

Case Report

Abo El Fotoh, Wafaa Moustafa M.; Al-fiky, Amira Fathy: A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

Case Report

Bossi, Grazia; Errichiello, Edoardo; Zuffardi, Orsetta; Marone, Piero; Monzillo, Vincenzina; Barbarini, Daniela; Vergori, Antonio; Bassi, Lorenzo Andrea; Rispoli, Gaetana Anna; De Amici, Mara; Zecca, Marco: Disseminated Mycobacterium Avium Infection in a Child with Complete Interferon-γ Receptor 1 Deficiency due to Compound Heterozygosis of IFNGR1 for a Subpolymorphic Copy Number Variation and a Novel Splice-Site Variant

Publication Date: 30 October 2019

Case Report

Anant, Monika; Raj, Nutan; Yadav, Neelu; Prasad, Arun; Kumar, Subhash; Saxena, Ajit K.: Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes