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Select item 108953801.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Article PDF–1.1M

Select item 108372632.

Biparietal remodelling and total vault remodelling in scaphocephaly—a comparative study using 3d stereophotogrammetry

Peter Spazzapan, Miha Verdenik, Tomaž Velnar

Childs Nerv Syst. 2024; 40(2): 517–526. Published online 2023 Aug 22. doi: 10.1007/s00381-023-06115-8

PMCID:: PMC10837263

Article PDF–1.4M

Select item 108262923.

Beyond aesthetics: A case report of pneumosinus dilatans frontalis presenting with headache

Akbar Bayat, Sara S. Nabavizadeh, Tayebeh Kazemi

Int J Surg Case Rep. 2024 Feb; 115: 109272. Published online 2024 Jan 13. doi: 10.1016/j.ijscr.2024.109272

PMCID:: PMC10826292

Article PDF–1.8M

Select item 108221814.

Review of published 467 achondroplasia patients: clinical and mutational spectrum

XinZhong Zhang, Shan Jiang, Rui Zhang, Siyi Guo, Qiqi Sheng, Kaili Wang, Yuanyuan Shan, Lin Liao, Jianjun Dong

Orphanet J Rare Dis. 2024; 19: 29. Published online 2024 Jan 27. doi: 10.1186/s13023-024-03031-1

PMCID:: PMC10822181

Article PDF–1.2M

Select item 108154655.

First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review

Elia Marco Paolo Minale, Alessandro De Falco, Emanuele Agolini, Antonio Novelli, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Carmelo Piscopo

Genes (Basel) 2024 Jan; 15(1): 130. Published online 2024 Jan 20. doi: 10.3390/genes15010130

PMCID:: PMC10815465

Article PDF–1.5M

Select item 108152766.

ITPR1-associated spinocerebellar ataxia with craniofacial features—additional evidence for germline mosaicism

Robert Kleyner, Nathaniel Ung, Mohammad Arif, Elaine Marchi, Karen Amble, Maureen Gavin, Ricardo Madrid, Gholson Lyon

Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006303. doi: 10.1101/mcs.a006303

PMCID:: PMC10815276

Article PDF–1.9M

Select item 107717727.

Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

Nouf F Bin Rubaian, Bashayer S Al-Awam, Samah M Aljohani, Serene R Almuhaidib

Clin Cosmet Investig Dermatol. 2024; 17: 13–16. Published online 2024 Jan 3. doi: 10.2147/CCID.S438505

PMCID:: PMC10771772

Article PDF–476K

Select item 107496788.

The Accuracy of Classification Systems in Nonsyndromic Sagittal Craniosynostosis

Tymon Skadorwa, Joanna Skadorwa, Olga Wierzbieniec

J Craniofac Surg. 2024 Jan-Feb; 35(1): 13–17. Published online 2023 Aug 28. doi: 10.1097/SCS.0000000000009670

PMCID:: PMC10749678

Article PDF–303K

Select item 107428849.

Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis

Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor

Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212

PMCID:: PMC10742884

Article PDF–4.1M

Select item 1069754910.

Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant

Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu

Am J Case Rep. 2023; 24: e942377-1–e942377-10. Published online 2023 Nov 29. doi: 10.12659/AJCR.942377

PMCID:: PMC10697549

Article PDF–1.3M

Select item 1060536211.

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Ali Al Kaissi, Sergey Ryabykh, Vladimir Kenis, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher, Franz Grill

Children (Basel) 2023 Oct; 10(10): 1715. Published online 2023 Oct 22. doi: 10.3390/children10101715

PMCID:: PMC10605362

Article PDF–3.4M

Select item 1059742012.

A Photo Score For Aesthetic Outcome In Sagittal Synostosis: An ERN CRANIO Collaboration

Linda Gaillard

J Craniofac Surg. 2023 Nov-Dec; 34(8): 2279–2283. Published online 2023 Sep 13. doi: 10.1097/SCS.0000000000009732

PMCID:: PMC10597420

Article PDF–463K

Select item 1058827113.

The Esthetic Perception of Morphological Severity in Scaphocephalic Patients is Correlated With Specific Head Geometrical Features

Alessandro Borghi, P. Heutinck, N. Rodriguez-Florez, M. Koudstaal, F. Ruggiero, S. Ajami, S. Schievano, N.U.O. Jeelani, D. Dunaway

Cleft Palate Craniofac J. 2023 Dec; 60(12): 1591–1599. Published online 2022 Jul 3. doi: 10.1177/10556656221111307

PMCID:: PMC10588271

Article PDF–1.0M

Select item 1052481414.

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family

Rana Muhammad Kamran Shabbir, Gökhan Nalbant, Qamar Zaman, Aslıhan Tolun, Sajid Malik, Sara Mumtaz

Yale J Biol Med. 2023 Sep; 96(3): 313–325. Published online 2023 Sep 29. doi: 10.59249/TCAA2040

PMCID:: PMC10524814

Article PDF–1.0M

Select item 1043663815.

Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature

Lijie Li, Cuihua Liu, Ming Tian, Guangbo Li, Jitong Li

BMC Pediatr. 2023; 23: 407. Published online 2023 Aug 18. doi: 10.1186/s12887-023-04110-1

PMCID:: PMC10436638

Article PDF–1.1M

Select item 1032467716.

Hallermann-Streiff Syndrome and Psychosis: A Case Report

Tarvis Peacock, Ubaid Khokhar, Jaclyn Murphy, Zach Murphy

HCA Healthc J Med. 2022; 3(1): 29–33. Published online 2022 Feb 26. doi: 10.36518/2689-0216.1311

PMCID:: PMC10324677

Article PDF–256K

Select item 1028713017.

Frontofacial Features of Unilateral Lambdoid Craniosynostosis: A Multicenter Assessment

Jonathan Lee, Sanjay Naran, Daniel Mazzaferro, Ari Wes, Erin E. Anstadt, Jesse Taylor, Jesse Goldstein, Scott Bartlett, Joseph Losee

Plast Reconstr Surg Glob Open. 2023 May; 11(5): e5011. Published online 2023 May 19. doi: 10.1097/GOX.0000000000005011

PMCID:: PMC10287130

Article PDF–752K

Select item 1009100518.

A Case of Short Stature Caused by a Mutation in the ACAN Gene

Emine Karatas, Mikail Demir, Firat Ozcelik, Leyla Kara, Esra Akyurek, Ugur Berber, Nihal Hatipoglu, Yusuf Ozkul, Munis Dundar

Mol Syndromol. 2023 Apr; 14(2): 123–128. Published online 2022 Oct 21. doi: 10.1159/000526166

PMCID:: PMC10091005

Article PDF–750K

Select item 987023119.

Endoscopic-assisted Surgery in the Treatment of Isolated Frontosphenoidal Craniosynostosis

Subhashree Ravi, Ghaith AlSaadawi, Mohammad Al Olama, Charl Stenger, Derek A. Mendonca

Plast Reconstr Surg Glob Open. 2023 Jan; 11(1): e4788. Published online 2023 Jan 23. doi: 10.1097/GOX.0000000000004788

PMCID:: PMC9870231

Article PDF–885K

Select item 986973420.

Autism and duplication of 17q12q21.2 by array-CGH: a case report

Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami

Rev Paul Pediatr. 2023; 41: e2021387. Published online 2023 Jan 20. doi: 10.1590/1984-0462/2023/41/2021387