Ebstein anomaly is a rare congenital disorder that involves the tricuspid valve and the right ventricle. It is associated with interatrial communication, which allows for paradoxical embolization causing unilateral blindness. Abnormal conduction through the atrialized right ventricle leads to QRS fragmentation on electrocardiogram. Its presence suggests a more severe abnormality and a higher risk of arrhythmia. The QRS fragmentation disappears after corrective surgery with resection of the atrialized right ventricle.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical mutation and developed a T-cell lymphoma so far never described in this group of patients.
Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.
Interruption of the pulmonary artery is a rare congenital disorder. The clinical symptoms are non-specific and radiological investigations are the key to diagnosis. We present a case of interruption of the left pulmonary artery associated with Tetralogy of Fallot in a young male. The radiological and clinical features of this condition are also reviewed. DOI: http://dx.doi.org/10.3126/njr.v1i1.6322 Nepalese Journal of Radiology Vol.1(1): 37-40
ABSTRACT
Phocomelia—phoco(seal), melia(limbs)—is a rare congenital deformity in which hands or feet are attached close to the trunk, the limbs being grossly underdeveloped or absent. The babies are born with limbs that look like flippers on a seal. The two main etiological factors of phocomelia are genetic inheritance and use of the drug thalidomide. Here, we present a case of phocomelia in second gravida without exposure to thalidomide.
Abstract
Neutrophil specific granule deficiency (SGD) is a rare congenital disorder of unknown cause associated with an impaired inflammatory response and an absence of neutrophil secondary granules. Reduced levels of several neutrophil proteins have led to the suggestion that the defect may lie at the level of transcription, a hypothesis that is supported by abnormally low levels of lactoferrin message in the bone marrow of two SGD patients. We have examined the level of seven granule protein RNAs in one SGD patient and have compared them with reported protein levels. We have found the RNA levels for all of these genes to be reduced in proportion to the decreased levels of their respective proteins. These data further support the hypothesis that the reduced protein levels reflect a defect in transcriptional control.
VP32.16: Goldenhar syndrome: a rare congenital disorder with scarce prenatal findings: two cases in the same region
