Results 71 to 80 of about 8,039 (258)

CAMRI Policy Brief: Appearance, Discrimination and the Media - Portraying Facial Disfigurement Fairly in the News [PDF]

open access: yes, 2018
The portrayal of disfigurement in the UK media must change. This policy brief is based on recent research that found a general negative and sensationalised attitude towards disfigurement in the media.
Diana, G.   +5 more
core   +3 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Intra parotid cystic lymphangioma masquerading as a neoplasm, a rare entity at unusual site

open access: yesMuller Journal of Medical Sciences and Research, 2019
Cystic hygroma is an uncommon congenital malformation and usually present as an asymptomatic, painless, soft, fluctuant mass in infancy, and early childhood. The neck is the most common site followed by the face, tongue, and floor of the mouth.
Nibedita Sahoo   +4 more
doaj   +1 more source

Surgical Management of Pediatric Lymphatic Malformations: A Cross‐Sectional Study of Outcomes, Complications, and Recurrence at a Tertiary Care Center

open access: yesHealth Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aims Lymphatic malformations (LMs) are congenital anomalies of the lymphatic system, frequently affecting pediatric populations. While complete surgical excision remains a primary therapeutic option, factors influencing outcomes, including lesion location and age at intervention, remain inadequately explored.
Nashwa Mohammed Al Nwaijie   +4 more
wiley   +1 more source

Adrenal glands in normal and anomalous foetuses - a comparative study

open access: yesNational Journal of Clinical Anatomy, 2017
Background and aim: Foetal adrenal gland is an important factor which determines neonatal survival. Adrenal hypoplasia can result in respiratory distress and neonatal death.
C Manju Madhavan
doaj   +1 more source

Cystic hygroma: Anaesthetic considerations in emergency excision

open access: yesNigerian Journal of Medicine, 2020
This is a case report of an 8-month-old male who presented with right huge infected haemorrhagic cystic hygroma with airway obstruction and pharyngotonsillitis. Right cystic hygroma was diagnosed at 3 months of age but was managed conservatively until he
I M Chukwu   +3 more
doaj   +1 more source

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
CfDNA screening effectively detected SCAs often undetected by routine prenatal ultrasound. Maternal SCAs showed rare fetal transmission. ABSTRACT Introduction To assess the clinical efficacy of prenatal cfDNA screening for detecting sex chromosome aneuploidies (SCAs).
Ying Lin   +8 more
wiley   +1 more source

Thyroglossal cyst our experience [PDF]

open access: yes, 2013
This study shares our experiences in managing patients with thyroglossal cysts. These are common midline tumors of neck. Characteristically these masses move on protrusion of tongue due to their intimate relationship with hyoid bone.
Ramamoorthy, Geetha   +2 more
core   +1 more source

Chronic subdural haematoma and arachnoid cyst in autosomal dominant polycystic kidney disease (ADPKD) [PDF]

open access: yes, 2005
We present the unusual association between chronic subdural haematoma (CSDH), intracranial arachnoid cyst and autosomal dominant polycystic kidney disease (ADPKD) in a 27-year-old man. CSDH is a documented complication of intracranial arachnoid cyst, the
Leung, GKK, Yiu, WF
core   +1 more source

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