Results 81 to 90 of about 3,968 (247)

Ankyloglossia: Surgical management and functional rehabilitation of tongue

open access: yesIndian Journal of Dental Research, 2017
Ankyloglossia or “tongue-tie” is a rare congenital anomaly characterized by an abnormally short, thick, fibrosed lingual frenulum which may cause restriction in function of tongue including limitation in tongue movement.
Shadab Khan   +2 more
doaj   +1 more source

Superior ankyloglossia syndrome

open access: yesJournal of Pediatric Surgery Case Reports, 2020
We report a rare case of superior ankyloglossia syndrome in a male neonate who had palatoglossal adhesion, cleft palate, patent ductus arteriosus, penile chordee without hypospadias and penoscrotal transposition.
Tanvir Kabir Chowdhury   +4 more
doaj   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, Volume 108, Issue 3, Page 334-346, September 2025.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

Severe Megaloblastic Anaemia in an Infant [PDF]

open access: yes, 2011
Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ   +4 more
core   +2 more sources

Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series

open access: yesPediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala   +9 more
wiley   +1 more source

Labial ankyloglossia associated with oligodontia: a case report.

open access: yesFrontiers in Dentistry, 2014
Developmental disturbances of the tongue (aglossia, macroglossia, microglossia, and ankyloglossia) can adversely affect the development of the surrounding structures including the palate, alveolar process, and teeth.
L Chandrashekar   +2 more
doaj  

Epidermolysis bullosa for primary care providers: A practical review

open access: yesJournal of General and Family Medicine, Volume 26, Issue 4, Page 279-291, July 2025.
Abstract Epidermolysis bullosa (EB) is a group of genetic skin diseases, which manifest as fragile skin and blistering in addition to many extracutaneous conditions. Pediatricians and primary care providers play an integral role in managing these patients with multifaceted care needs.
Kennedy Sparling   +9 more
wiley   +1 more source

An update on the aetiology of orofacial clefts [PDF]

open access: yes, 2004
Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft ...
Hägg, U, Wong, FK
core  

Az epidermolysis bullosa szájüregi tünetei és annak ellátása [PDF]

open access: yes, 2017
The aim of this comprehensive article is to provide guidelines for the daily treatment of patients with epidermolysis bullosa, thus contributing to the attainment of their higher quality of life through the improvement of their oral health.
Antal, Márk Ádám   +5 more
core   +3 more sources

Ankyloglossia with cleft lip: A rare case report

open access: yesJournal of Indian Society of Periodontology, 2015
Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment ...
Kritika Jangid   +4 more
doaj   +1 more source

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