Background GLI3 is a transcriptional regulator of several genes involved in mammalian skeletal development. Mutations in the pleiotropic gene GLI3 may result in different inherited disorders including Greig cephalopolysyndactyly syndrome (GCPS). GCPS is characterized by mild to severe craniofacial and limb malformations.

Methods and Results Here, we report clinical and molecular study of 3 families with GCPS originated in different regions of Pakistan. Sanger sequencing revealed two novel variants ...

Objective To summarize the clinical features of primary nephrotic syndrome (PNS) complicated by plastic bronchitis (PB) in children to provide guidance for treatment.

Methods We conducted a retrospective review of the clinical data of 25 children hospitalized with NS complicated by PB in our Hospital between 10/2016 and 03/2019, and summarized the clinical manifestations, imaging and fiberoptic bronchoscopy (FOB) examinations, treatment course and outcome of them.

Results 1). The 25 children, with a ...

Neonates with congenital heart disease are at a high risk of vascular thrombosis. Thrombosis may occur due to vascular injury, increased blood viscosity secondary to polycythemia associated with congenital cyanotic heart diseases, or stasis of blood flow associated with low cardiac output (Schmidt B & Andrew M., Pediatrics 1995; 96: 939–943. Veldman A et al.,Vasc Health Risk Manag 2008; 4: 1337–1348).

Cystinosis is a rare autosomal recessive lysosomal storage disease characterized by defective transport of the aminoacid cystine across the lysosomal membrane leading to lysosomal accumulation of cystine in many organs, mainly kidneys and eyes (Nesterova & Gahl, In GeneReviews, 2017; Servais et al., Clin J Am Soc Nephrol, 2008; 3: 27–35). The annual incidence of cystinosis is 1 in 100,000–200,000 live births in the United States and Europe (Gahl et al., N Engl J Med. 2002; 347: 111–121). All for...

Lymphedema is a localized form of tissue swelling, characterized by a progressive accumulation of a tissue fluid in the interstitial compartment as a result of the lymphatic system dysfunction. It is a rare disease in the pediatric population and in the majority of cases it is a consequence of an abnormal formation of the lymphatic system, which is called primary lymphedema. Although its epidemiology is not precise, it is assumed that 1:100 000 children suffer from primary lymphedema. The diagno...