Chromosomal or segmental aneusomy are an important cause of congenital malformations, emphasizing the need for cytogenetic evaluation. Many congenital malformations, especially those with multi-systemic anomalies present overlapping phenotypic features that could partly be attributed to multiple gene deregulations. Moreover, the expressivity of phenotypic features of a particular syndrome could...

[1] In this study, statistical evidence of a possible modulation of the equatorial stratospheric quasi‐biennial oscillation (QBO) by the solar wind dynamic pressure is provided. When solar wind dynamic pressure is high, the QBO at 30–70 hPa is found to be preferably more easterly during July–October. These lower stratospheric easterly anomalies are primarily linked to the high‐frequency compone...

An eight-month-old boy who presented with a 15-day history of vomiting was revealed to be suffering from urinary tract infection and nephrocalcinosis caused by vitamin D intoxication. During the treatment of vitamin D intoxication (alendronate, 5 mg/day), he developed urinary tract infection and septic arthritis of the left hip joint. Escherchia coli was isolated from his blood, urine, and join...

Unilateral absence of a pulmonary artery (UAPA) is a rare pulmonary vascular anomaly that is usually associated with other cardiac anomalies. We report a 9-year-old female diagnosed with isolated unilateral absence of the left pulmonary artery and a right aortic arch but without other cardiac anomalies. The only symptoms the patient had were recurrent respiratory tract infections. The chest x-r...

Ectopic thoracic kidneys are rare anomalies, accounting for less than 5% of all renal ectopia. The anomaly is usually found incidentally on a chest radiograph, with no respiratory or systemic symptoms. It usually presents in the left posteroinferior thorax, associated with a congenital diaphragmatic defect or hernia and is more frequent in males than females. Associated anomalies of other organ...

esults: Interrupted aortic arch was type A in 17 patients and type B in 3 patients. ortopulmonary window morphology was type I (n 10), type II (n 5), and type II (n 5). Associated cardiovascular anomalies were common, including atrial eptal defect (n 13) and systemic venous anomalies (n 3). Overall survival after nitial admission was 91%, 86%, and 84% at 1, 5, and 10 years, respectively. Fiftee...

Pulmonary sequestration is an uncommon congenital anomaly characterised by a mass of non-functional, dysplastic lung parenchyma that docs not communicate with the normal tracheobronchial tree. Such an anomaly commonly receives its blood supply from the systemic circulation. The sequestered pulmonary segment is considered to be intralobar if it is enclosed within the common pleura enveloping the...

OBJECTIVES Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a...

Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema. The peculiar face of individuals with Dubowitz syndrome includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and microgna...