Results 201 to 210 of about 53,280 (283)

Pediatric triad of craniofacial fibrous dysplasia, Chiari malformation type I and syringomyelia: a case report. [PDF]

Acta Neurochir (Wien)
Li Y, Liu J, Guan J, Li C.
europepmc   +1 more source

Diprosopus dirrhinus (nasal duplication) in a female Holstein Friesian calf: Clinical findings, diagnostic imaging and surgical management

Veterinary Record Case Reports, Volume 14, Issue 2, May 2026.
Abstract An 11‐week‐old Holstein Friesian heifer calf presented with a congenital nasal abnormality characterised by an additional, turbinate‐like structure located dorsally on the nasal bridge. Clinical examination of the calf revealed normal respiratory function, with the accessory structure producing mucoid discharge from blind‐ended cavities ...
Raffaela Marian, Michael J. S. Duggan, Clodagh M. Kearney, Antonella Puggioni, Eoin G. Ryan   +4 more
wiley   +1 more source

Partial craniofacial duplication in a resource-limited setting: a case report. [PDF]

Int J Surg Case Rep
Yefter ET, Belay SA, Workneh ZA, Woldemeleak MW.   +3 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation. [PDF]

Radiol Case Rep
Liu B, Gu W, Min L, Wei J, Wang X.
europepmc   +1 more source

Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models. [PDF]

Biol Open
Swatowska P, Odrzywolski A, Kuźniarz K, Tylzanowski P.   +3 more
europepmc   +1 more source

The Regenerative Effect of Various Barrier Membranes With and Without Bone Grafting in Critical Size Defects in Rabbit Calvaria

Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Objectives This multicentre randomized controlled clinical trial aims to investigate the regenerative effects of various thicknesses and types of barrier materials with and without bone grafting in a rabbit calvaria model. Materials and Methods One hundred male rabbits were partitioned into two groups: one without bone graft (NB) and one with ...
Abdelsalam Elaskary, Rola Al Habashneh, Tasneem Sharairi, Moataz Meabed, Mahmoud Akram Khodir, Ahmed Zaki, Mohammed Alorjani, Bassem Elfahl, Malek Hudieb, Alhassan Diab, Mihad Ibrahim   +10 more
wiley   +1 more source

Adalimumab‐responsive Monogenic Inflammatory Bowel Disease With Pseudopolyposis Characteristic of TGFBR2 Variant in Loeys‐Dietz Syndrome

DEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Loeys‐Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in TGFBR1 or TGFBR2. It is characterized by vascular fragility, skeletal abnormalities, and predisposition to allergic and inflammatory conditions, including monogenic inflammatory bowel disease (IBD).
Tomomitsu Sado, Satoshi Ukai, Shingo Kurasawa, Yosuke Kono, Norio Hasuda, Mai Iwaya, Takaya Nakane, Tomomi Yamaguchi, Tomoki Kosho, Yoshiko Nakayama   +9 more
wiley   +1 more source

Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]

Medicine (Baltimore)
Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc   +1 more source

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Children with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Adilina Soares Romeiro Rodrigues, Pedro Ykaro Fialho Silva, Ramiro Pinheiro Rodrigues, Kylvia Giselle Fernandes Dantas Pinho, Sthefani da Costa Penha, Álvaro Jorge Madeiro Leite   +5 more
wiley   +1 more source