Results 81 to 90 of about 1,473 (227)

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

The fetal phenotype is a trajectory, not a snapshot

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
The evolving fetal phenotype. Serial prenatal ultrasound may reveal emerging or changing fetal features that inform reassessment of genetic findings. Reporting the timing of observations, changes in the fetal phenotype and any subsequent revision of variant interpretation helps clarify the contribution of longitudinal imaging to prenatal diagnosis ...
Florian Recker, Adeline Walter, Ulrich Gembruch   +2 more
wiley   +1 more source

The Clinical Utility of Individual Iodine Status Measures in Infants With Abnormal Thyroid Function: A Systematic Review

Clinical Endocrinology, EarlyView.
ABSTRACT Objective To evaluate methods used to assess individual iodine status in infants under 2 years of age and to examine their clinical utility in relation to thyroid dysfunction across different clinical contexts. Design The protocol was registered on PROSPERO and followed PRISMA guidelines.
Sabrina Bilston‐John, Ellen Fawcett, Yoon Hi Cho, Michelle Marion Jack   +3 more
wiley   +1 more source

Un caso de hernia diafragmatica (Agenesia parcial del hemídiafragma izquierdo) plastia del díafragma con pulmón atelectásico

Revista de la Facultad de Medicina, 1951
Hospital de la Misericordia. Servicio del doctor Martínez. Sala Rosa. C. J. P. E. 10 años. N. El Charquito (Soacha). F. de L .Septi~tnbre 12 de 1950. F. de S. Noviembre 5 de 1950. D. Preliminar, neumonía. C. de ingreso. Consulta porque
Alfonso Bonilla Naar, Angel María Corredor, Ernesto Sabogal   +2 more
doaj  

Agenésia da vagina.

Acta Médica Portuguesa, 1998
In the last 10 years we treated ten patients with the diagnosis of vaginal agenesia. The reconstruction was performed according to the McIndoe procedure.
F Melo, C Godinho
doaj   +1 more source

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

Clinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund, Esben Thyssen Vestergaard, Edvard Marinovskij, Dorte Launholt Lildballe, Jenny Blechingberg, Morten Krogh Herlin   +5 more
wiley   +1 more source

Impacto de la agenesia de incisivos laterales maxilares en la oclusión: revisión bibliográfica

International Journal of Interdisciplinary Dentistry
Objetivo: describir el impacto de la agenesia no sindrómica de incisivos laterales maxilares permanentes en la oclusión. Material y método: se realizó una búsqueda de la evidencia disponible de manera electrónica en las bases de datos PubMed, Cochrane ...
Ignacia Cuellar-Chaparro, Mabel López-Reyes, Paulina Espinoza-Jiménez   +2 more
doaj   +1 more source

Polymicrogyria and Cardiac Arrhythmia in a Neonate With Biallelic Stop‐Gain Variant in TMEM161B: Expanding the Phenotype

Prenatal Diagnosis, EarlyView.
Miriam Bertrand, Ute Grasshoff, Cornelia Wiechers, Dennis Witt, Vivien Richter, Andreas Dufke, Karl Oliver Kagan, Tobias B. Haack   +7 more
wiley   +1 more source

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Cerebral Ventriculomegaly With Abnormality of the Aqueduct of Sylvius: A Case Series

Clinical Genetics, EarlyView.
Genetic testing leads to a diagnostic rate of ~30% in a fetal cohort with cerebral ventriculomegaly where the neuropathological examination revealed a stenosis or atresia of the aqueduct of Sylvius. ABSTRACT Fetal cerebral ventriculomegalies are brain anomalies with potentially poor neurodevelopmental prognosis.
Romain Nicolle, Laurence Loeuillet, Bettina Bessieres, Lucile Boutaud, Sarah Grotto, Nicolas Bourgon, Maryse Bonniere, Jelena Martinovic, Aude Tessier, Nathalie Roux, Giulia Petrilli, Naima Talhi, Marion Lesieur‐Sebellin, Jérémy Bertrand, Anaïs L'haridon, Aurélie Coussement, Marie‐Laure Maurin, Marie‐Paule Beaujard, Valérie Malan, Férechté Razavi, Tania Attie‐Bitach   +20 more
wiley   +1 more source