A Rare Presentation of Dandy-Walker Syndrome with Meningitis Symptoms in a 3-Month-Old Female: A Case Study From Somalia

Authors: Ali AO, abdilahi SA, ahmed HA, ahmed HH, muse AA, Abdi MH

Source: Pediatric Health, Medicine and Therapeutics, Vol Volume 16, Pp 75-81 (2025)

Subject Terms: dandy-walker syndrome, cerebellar malformation, macrocephaly, developmental delay, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.dovepress.com/a-rare-presentation-of-dandy-walker-syndrome-with-meningitis-symptoms--peer-reviewed-fulltext-article-PHMT; https://doaj.org/toc/1179-9927

Access URL: https://doaj.org/article/5c9a5e8fa864439f9cc3062d887e7425

Congenital external hydrocephalus: A rare presentation of lobar holoprosencephaly in a neonate

Authors: Rakshanda Agrawal, MBBS, Nishant Raj, MD, Vaishali Dhawan, MD, Pratapsingh Parihar, MD, Nikita Bora, MBBS

Source: Radiology Case Reports, Vol 20, Iss 5, Pp 2323-2327 (2025)

Subject Terms: External hydrocephalus, Lobar holoprosencephaly, Neonatal macrocephaly, Congenital anomalies, Neuroimaging, Pediatric neurosurgery, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043325000809; https://doaj.org/toc/1930-0433

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Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management

Authors: Adarsh Vijayakumar, Rashmi Mary Philip, Sebastian Criton

Source: Indian Journal of Paediatric Dermatology, Vol 25, Iss 4, Pp 315-318 (2024)

Subject Terms: child, dermatoscopy, gorlin–goltz syndrome, hypertelorism, macrocephaly, nevoid basal cell carcinoma syndrome, Dermatology, RL1-803, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://journals.lww.com/10.4103/ijpd.ijpd_41_24; https://doaj.org/toc/2319-7250; https://doaj.org/toc/2319-7269

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A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures

Authors: Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily Tran, Bobbi McGivern

Source: HGG Advances, Vol 6, Iss 2, Pp 100394- (2025)

Subject Terms: PPP2R5C, candidate gene, gene discovery, macrocephaly, seizure, intellectual disability, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724001349; https://doaj.org/toc/2666-2477

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The prenatal imaging of a rare congenital intracranial teratoma

Authors: Andrea Vrionis, MS, Julia Hegert, MD, Larry Matsumoto, MD, Laura Hayes, MD, Jennifer Neville Kucera, MD, MS

Source: Radiology Case Reports, Vol 19, Iss 10, Pp 4213-4218 (2024)

Subject Terms: Teratoma, Congenital tumor, Intracranial mass, Hydrocephalus, Macrocephaly, Medical physics. Medical radiology. Nuclear medicine, R895-920

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Relation: http://www.sciencedirect.com/science/article/pii/S1930043324005636; https://doaj.org/toc/1930-0433

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Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome

Authors: Lisa Asta, Arianna Ricciardello, Francesca Cucinotta, Laura Turriziani, Maria Boncoddo, Fabiana Bellomo, Jessica Angelini, Martina Gnazzo, Giulia Scandolo, Giulia Pisanò, Francesco Pelagatti, Fethia Chehbani, Michela Camia, Antonio M. Persico

Source: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-24 (2024)

Subject Terms: 22q13 deletion syndrome, Autism spectrum disorder, Hyperserotonemia, Intellectual disability, Macrocephaly, Neuroinflammation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

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Relation: https://doaj.org/toc/1866-1955

Access URL: https://doaj.org/article/8b092706895e4762b4e869959cc80894

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Authors: Verbinnen, Iris ^{1, 2, 71}, Douzgou Houge, Sofia ^{3, 4, 71}, Hsieh, Tzung-Chien ⁵, Lesmann, Hellen ⁶, Kirchhoff, Aron ⁵, Geneviève, David ⁷, Brimble, Elise ⁸, Lenaerts, Lisa ¹, Haesen, Dorien ¹, Levy, Rebecca J. ⁹, Thevenon, Julien ¹⁰, Faivre, Laurence ^{11, 12}, Marco, Elysa ¹³, Chong, Jessica X. ¹⁴, Bamshad, Mike ^{14, 15}, Patterson, Karynne ¹⁵, Mirzaa, Ghayda M. ^{14, 16}, Foss, Kimberly ¹⁷, Dobyns, William ¹⁸, White, Susan M. ^{19, 20}, Pais, Lynn ²¹, O’Heir, Emily ^{21, 22}, Itzikowitz, Raphaela ²³, Donald, Kirsten A. ²³, Van der Merwe, Celia ^{24, 25}, Mussa, Alessandro ²⁶, Cervini, Raffaela ²⁷, Giorgio, Elisa ^{28, 29}, Roscioli, Tony ^{30, 31, 32}, Dias, Kerith-Rae ^{30, 33}, Evans, Carey-Anne ^{30, 32}, Brown, Natasha J. ^{34, 35}, Ruiz, Anna ³⁶, Trujillo Quintero, Juan Pablo ³⁷, Rabin, Rachel ³⁸, Pappas, John ³⁸, Yuan, Hai ³⁹, Lachlan, Katherine ⁴⁰, Thomas, Simon ^{41, 42}, Devlin, Anita ^{43, 44}, Wright, Michael ⁴⁵, Martin, Richard ⁴⁶, Karwowska, Joanna ⁴⁷, Posmyk, Renata ⁴⁷, Chatron, Nicolas ^{48, 49}, Stark, Zornitza ^{34, 50, 51}, Heath, Oliver ³⁴, Delatycki, Martin ^{34, 51, 52}, Buchert, Rebecca ⁵³, Korenke, Georg-Christoph ⁵⁴, Ramsey, Keri ⁵⁵, Narayanan, Vinodh ⁵⁵, Grange, Dorothy K. ⁵⁶, Weisenberg, Judith L. ⁵⁷, Haack, Tobias B. ^{53, 58}, Karch, Stephanie ⁵⁹, Kipkemoi, Patricia ⁶⁰, Mangi, Moses ⁶⁰, Bindels de Heus, Karen G.C.B. ^{61, 62}, de Wit, Marie-Claire Y. ^{62, 63}, Barakat, Tahsin Stefan ^{62, 64, 65}, Lim, Derek ⁶⁶, Van Winckel, Géraldine ⁶⁷, Spillmann, Rebecca C. ⁶⁸, Shashi, Vandana ⁶⁸, Jacob, Maureen ⁶⁹, Stehr, Antonia M. ⁶⁹, Krawitz, Peter ⁵, Douzgos Houge, Gunnar ^{3, ∗}, Janssens, Veerle ^{1, 2, ∗∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):554-571

Neuronal subset-specific Pten-deficient mice do not exhibit deficits in sensorimotor gating processes [version 4; peer review: 1 approved, 2 approved with reservations]

Authors: Matthew S. Binder, Joaquin N. Lugo, Suzanne O. Nolan

Source: F1000Research, Vol 8 (2025)

Subject Terms: autism, pten, macrocephaly, ASD, sensorimotor, eng, Medicine, Science

File Description: electronic resource

Relation: https://f1000research.com/articles/8-1727/v4; https://doaj.org/toc/2046-1402

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Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

Authors: Fatima Bostanova, Olga Levchenko, Margarita Sharova, Natalia Semenova

Source: Clinics and Practice, Vol 14, Iss 3, Pp 928-933 (2024)

Subject Terms: Tatton–Brown–Rahman syndrome, DNMT3A, acute myeloid leukemia, intellectual disability, macrocephaly, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2039-7283/14/3/73; https://doaj.org/toc/2039-7283

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The Development of Standardized National Head Circumference Growth Charts for Jordanian Children Aged 0–5 Years: A Longitudinal and Cross-Sectional Study

Authors: Walid Al-Qerem, Anan Jarab, Ahmad Al-Azayzih, Judith Eberhardt, Ruba Zumot, Fawaz Alasmari, Alaa Hammad

Source: Children, Vol 12, Iss 2, p 224 (2025)

Subject Terms: head circumference, growth charts, Jordanian children, pediatric growth patterns, microcephaly, macrocephaly, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/12/2/224; https://doaj.org/toc/2227-9067

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Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life

Authors: Lara Cirnigliaro, Luisa Clericò, Lorenza Chiara Russo, Adriana Prato, Manuela Caruso, Renata Rizzo, Rita Barone

Source: Frontiers in Psychiatry, Vol 15 (2024)

Subject Terms: Autism Spectrum Disorder, macrocephaly, head circumference, head growth trajectory, neurodevelopment, endophenotype, Psychiatry, RC435-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1431693/full; https://doaj.org/toc/1664-0640

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Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria

Authors: Daniyan OW, Ezeanosike OB, Ogbonna-Nwosu C, Iloduba UC

Source: Nigerian Journal of Paediatrics, Vol 47, Iss 3, Pp 277-279 (2024)

Subject Terms: hanatophoric dysplasia (td), fibroblast growth factor receptor 3 gene (fgfr3), dysmorphic, macrocephaly, Medicine

File Description: electronic resource

Relation: https://www.njpaediatrics.com/index.php/njp/article/view/57; https://doaj.org/toc/0302-4660; https://doaj.org/toc/2814-2985

Access URL: https://doaj.org/article/0900439d31244af7a8f4d8c633319805

Clinical correlates of diagnostic certainty in children and youths with Autistic Disorder

Authors: Eya-Mist Rødgaard, Borja Rodríguez-Herreros, Abderrahim Zeribi, Kristian Jensen, Valérie Courchesne, Elise Douard, David Gagnon, Guillaume Huguet, Sebastien Jacquemont, Laurent Mottron

Source: Molecular Autism, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Diagnosis, Certainty, ADOS, Macrocephaly, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/f156ce5c0ff94870b5111790df82b259

A Pediatric Case of Bannayan–Riley–Ruvalcaba Syndrome with Recurrent Iron Deficiency Anemia

Authors: Soo Young Moon, In Hyuk Yoo

Source: Clinical Pediatric Hematology-Oncology, Vol 31, Iss 1, Pp 1-4 (2024)

Subject Terms: pten, pten hamartoma tumor syndrome, bannayan–riley–ruvalcaba syndrome, iron deficiency anemia, intestinal hamartoma, macrocephaly, Pediatrics, RJ1-570, Internal medicine, RC31-1245, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.cpho.or.kr/journal/view.html?doi=10.15264/cpho.2024.31.1.1; https://doaj.org/toc/2233-5250

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Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

Authors: Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco

Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-7 (2024)

Subject Terms: TAOK1, Periventricular nodular heterotopia, PVNH, PNH, Neuronal migration disorders, Macrocephaly, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1755-8794

Access URL: https://doaj.org/article/5beec6055b924a6e98b954d1773212b0

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome

Authors: Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy

Source: Clinics and Practice, Vol 15, Iss 1, p 22 (2025)

Subject Terms: development delay, macrocephaly, subcutaneous lipoma, palate cleft, pediatric, PTEN, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2039-7283/15/1/22; https://doaj.org/toc/2039-7283

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An Association Between Fetal Subarachnoid Space and Various Pathologies Using MR Imaging

Authors: Lior Onn-Margalit, Tal Weissbach, Michal Gafner, Shalev Fried, Ayelet Wandel, Tomer Ziv-Baran, Eldad Katorza

Source: Diagnostics, Vol 14, Iss 22, p 2535 (2024)

Subject Terms: subarachnoid space, macrocephaly, microcephaly, magnetic resonance imaging, fetal growth retardation, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/22/2535; https://doaj.org/toc/2075-4418

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Clinical factors associated with need for neurosurgical care in young children with imaging for macrocephaly: a case control study

Authors: Jessica F. Rohde, Jeffrey Campbell, Julie Barbera, Elena Taylor, Ashok Ramachandra, Christopher Gegg, Andrea Scherer, Joseph Piatt

Source: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

Subject Terms: Imaging, Macrocephaly, Pediatrics, Primary care, Risk factors, Neurosurgery, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/054a0d667860489aa1dc688e3116993a

Autism spectrum disorder and PTEN hamartoma tumor syndrome â Child and adolescent psychiatric perspective

Authors: Marta P. Antunes, Natália Tkachenko, Ana R. Soares, Graça Fernandes, Ana M. Fortuna, Célia Azevedo-Soares

Source: Portuguese Journal of Pediatrics, Vol 55, Iss 2 (2024)

Subject Terms: Autism spectrum disorder. Macrocephaly. PTEN hamartoma tumor syndrome., Pediatrics, RJ1-570, Medicine (General), R5-920

File Description: electronic resource

Relation: https://pjp.spp.pt/frame_eng.php?id=72; https://doaj.org/toc/2184-4453

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Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts

Authors: Jian Zha, Yong Chen, Fangfang Cao, Yuxin Xu, Zuozhen Yang, Shu Wen, Mengmeng Liang, Huaping Wu, Jianmin Zhong

Source: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)

Subject Terms: intellectual disorder, macrocephaly, megalencephalic leukoencephalopathy, MLC1, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/80cbee6e48c84bbba04e093af888ceb0