Tracheal anomalies associated with Down syndrome: A systematic review
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.25203
Abstract: Airway anomalies are accountable for a substantial part of morbidity and mortality in children with Down syndrome (DS). Although tracheal anomalies occur more often in DS children, a structured overview on the topic is lacking.… read more here.
Keywords: syndrome systematic; tracheal anomalies; anomalies associated; systematic review ... See more keywords
Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000014782
Abstract: Rationale: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. Patient concerns: Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations,… read more here.
Keywords: abl1 mutations; associated syndrome; abl1; germline abl1 ... See more keywords
SATB2‐associated syndrome (SAS) and associated dental findings
Sign Up to like & getrecommendations! Published in 2019 at "Special Care in Dentistry"
DOI: 10.1111/scd.12340
Abstract: OBJECTIVE Identify, diagnose, and document oral clinical and radiographic evidence associated with the genetic condition known as special AT-rich sequence-binding protein 2 (SATB2)-associated syndrome. Through identifying and publishing these common dental and behavioral findings, we… read more here.
Keywords: syndrome sas; satb2 associated; associated syndrome; sas associated ... See more keywords
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Human Mutation"
DOI: 10.1155/2023/8200176
Abstract: Characterized by developmental delay with severe speech delay, dental anomalies, cleft palate, skeletal abnormalities, and behavioral difficulties, SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2. The SAS phenotype range of severity has been… read more here.
Keywords: phenotype; satb2 associated; associated syndrome; quantitative phenotype ... See more keywords
Lessons of the month: HLA-B27-associated syndrome and spontaneous intracranial hypotension resulting in behavioural variant frontotemporal dementia.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical medicine"
DOI: 10.7861/clinmed.2020-0062
Abstract: Spontaneous intracranial hypotension is uncommon and results from a cerebrospinal fluid (CSF) leak. We describe the case of a marathon runner who presented with postural headache attributable to CSF venous fistulation originating from a lower… read more here.
Keywords: b27 associated; intracranial hypotension; associated syndrome; variant frontotemporal ... See more keywords