Supernumerary intrathoracic rib, a rare congenital anomaly: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24783
Abstract: A 17‐year‐old female who presented with cough, chest pain, dyspnea, and hemoptysis was found to have an intrathoracic rib. Patients who are diagnosed with intrathoracic ribs are most often asymptomatic and should undergo limited diagnostic… read more here.
Keywords: intrathoracic rib; supernumerary intrathoracic; rare congenital; case ... See more keywords
Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder
Sign Up to like & getrecommendations! Published in 2019 at "Saudi Journal of Ophthalmology"
DOI: 10.1016/j.sjopt.2019.09.008
Abstract: Abstract We present a rare case of Lamellar Ichthyosis with bilateral ectropion with left sided corneal ulcer with descemetocele in a four-month-old female child, the youngest ever reported. Ichthyosis is a group of skin disorders… read more here.
Keywords: ichthyosis; ectropion; ichthyosis rare; lamellar ichthyosis ... See more keywords
RARE-58. CONGENITAL METASTATIC CHORDOMA OF THE CLIVUS
Sign Up to like & getrecommendations! Published in 2020 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noaa222.768
Abstract: Abstract Chordomas are rare midline axial skeletal neoplasms that typically present in adults. They are infrequent in childhood with typical localization in the spheno-occipital skull base. They are derived from remnants of the embryonic notochord.… read more here.
Keywords: congenital metastatic; chordoma; metastatic chordoma; chordoma clivus ... See more keywords
Supernumerary digit of bilateral hands: a rare congenital anomaly presented as a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000587
Abstract: Introduction: Abnormalities in the development of hands and fingers are caused by faulty signaling centers, together with or without abnormal production of important regulatory proteins. One of those abnormalities is the supernumerary digit. Postaxial supernumerary… read more here.
Keywords: ulnar aspect; rare congenital; case; supernumerary digit ... See more keywords
A rare congenital anomaly: Anomalous fibromuscular cord of the left atrium
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.16551
Abstract: Left atrial anomalous fibromuscular cord is a rare congenital anomaly, which exists in a small proportion of the general population. Although its clinical significance remains largely unknown, it is generally considered a benign entity. We… read more here.
Keywords: cord; congenital anomaly; rare congenital; anomalous fibromuscular ... See more keywords
P476 Sirenomelia (Mermaid Syndrome) – A rare congenital disorder
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.812
Abstract: Background Sirenomelia or mermaid syndrome is an extremely rare congenital disorder involving the lower spine and lower limbs. Although usually fatal in the newborn period, survival in a handful of cases beyond infancy have been… read more here.
Keywords: sirenomelia mermaid; congenital disorder; mermaid syndrome; rare congenital ... See more keywords
Rare congenital abnormality resulting in spontaneous bilateral deep venous thrombosis and pulmonary emboli in a young healthy man
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-246555
Abstract: This report describes a unique case of a healthy man in his 30s, who presented with progressive unilateral leg swelling with no common risk factors identified. Two days prior to the swelling he had developed… read more here.
Keywords: thrombosis; congenital abnormality; abnormality resulting; healthy man ... See more keywords
Rare syndromes in dentistry Part 1: The Pierre Robin sequence: a focus on a rare congenital anomaly.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of paediatric dentistry"
DOI: 10.23804/ejpd.2023.24.01.14
Abstract: AIM The aim of this paper was to enlighten the peculiar findings of the Pierre Robin sequence, a rare congenital anomaly with important afterbirth comorbidities. The management of this pathology requires highly specialised centers and… read more here.
Keywords: congenital anomaly; pierre robin; rare congenital; robin sequence ... See more keywords