Results 101 to 110 of about 54,673 (271)

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

open access: yesClinical 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   +3 more
wiley   +1 more source

Ultrasonographic study of the incidence of pyramidal lobe and agenesis of the thyroid isthmus in Nnewi population

open access: yesJournal of Ultrasonography, 2018
Introduction: Ultrasound is the most reliable imaging modality for thyroid evaluation due to the limitations in the clinical examination of this gland. Thyroid gland developmental anomalies are rare.
Lotanna Somtoo Akudu   +3 more
doaj   +1 more source

Occlusal characteristics in modern humans with tooth agenesis. [PDF]

open access: yes
Non-syndromic permanent tooth agenesis affects a significant proportion of the population, especially if third molars are considered. Although tooth agenesis has been linked to a smaller craniofacial size, reduced facial convexity and a shorter skeletal ...
Alamoudi, Ragda   +9 more
core   +2 more sources

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

open access: yesClinical 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   +5 more
wiley   +1 more source

Congenital facial nerve aplasia: MR depiction of a rare anomaly

open access: yesIndian Journal of Radiology and Imaging, 2016
We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve.
Ishan Kumar   +3 more
doaj   +1 more source

Patterns of tooth agenesis in patients with orofacial clefts

open access: yes, 2013
Orofacial clefts are a common oral disorder associated with tooth agenesis. As information on the simultaneous absence of teeth can be an aid in treatment planning, a large sample of orofacial cleft patients was examined.
Tan, S.P.K.   +9 more
core   +1 more source

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

open access: yesClinical 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   +9 more
wiley   +1 more source

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

open access: yes
Prenatal Diagnosis, EarlyView.
Miriam Bertrand   +7 more
wiley   +1 more source

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

open access: yesClinical 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   +20 more
wiley   +1 more source

Multidisciplinary treatment of congenitally missing maxillary lateral incisors: a case report

open access: yesBioscience Journal, 2015
Congenital tooth agenesis and tooth loss due to dental traumatism are some of the most common causes leading to rehabilitation of young patients with dental implants.
Analice Giovani Pereira   +7 more
doaj  

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