Results 131 to 140 of about 14,956 (269)

Prenatal ultrasound diagnosis of poland syndrome [PDF]

, 2004
D'ARMIENTO, MARIA, MARTINELLI, PASQUALE, PALADINI, DARIO   +2 more
core   +1 more source

Radiological Society of North America (RSNA) 3D printing Special Interest Group (SIG): Guidelines for medical 3D printing and appropriateness for clinical scenarios [PDF]

, 2014
Este número da revista Cadernos de Estudos Sociais estava em organização quando fomos colhidos pela morte do sociólogo Ernesto Laclau. Seu falecimento em 13 de abril de 2014 surpreendeu a todos, e particularmente ao editor Joanildo Burity, que foi seu ...
Burity, Joanildo, Fonte, Isolda Belo da, Melo, Patricia Bandeira de   +2 more
core   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

A thorough analysis of data on the correlation between COL9A1 polymorphisms and the susceptibility to congenital talipes equinovarus: a meta-analysis

Journal of Orthopaedic Surgery and Research
Background Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV ...
Mohammad Golshan-Tafti, Seyed Alireza Dastgheib, Kamran Alijanpour, Reza Bahrami, Mahta Mazaheri, Hossein Neamatzadeh   +5 more
doaj   +1 more source

Early results of the ponseti method for the treatment of clubfoot in distal arthrogryposis [PDF]

, 2008
Alaee, Farhang, Boehm, Stephanie, Dobbs, Matthew B., Limpaphayom, Noppachart, Sinclair, Marc F.   +4 more
core   +2 more sources

Brachymetatarsia as an Early Clue to Turner Syndrome

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Congenital anomalies of the extremities, particularly bilateral toe or finger malformations, may provide an early and valuable clue to an underlying genetic disorder and should prompt further diagnostic evaluation. Brachymetatarsia is a rare associated finding that may raise suspicion for Turner syndrome, particularly when diagnosis is delayed
Hounaida Mahfoud, Zaki Elhanchi
wiley   +1 more source

Long-term follow-up of patients with clubfeet treated with extensive soft-tissue release [PDF]

, 2006
Dobbs, Matthew B., Nunley, Ryan, Schoenecker, Perry L.   +2 more
core   +2 more sources

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

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele [PDF]

, 2009
Alaee, Farhang, Dobbs, Matthew B., Gerlach, David J., Gurnett, Christina A., Kirchhofer, Melissa, Limpaphayom, Noppachart, Porter, Kristina, Smyth, Matthew D., Zhang, Zhongli   +8 more
core   +2 more sources