Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44).

Establishment of diagnostic reference levels in computed tomography in two large hospitals in Oman.

This study aimed to estimate diagnostic reference levels (DRLs) for the most frequent computed tomography (CT) imaging examinations to monitor and better control radiation doses delivered to patients. Seven CT imaging examinations: Head, Chest, Chest High Resolution (CHR), Abdomen Pelvis (AP), Chest Abdomen Pelvis (CAP), Kidneys Ureters Bladder (KUB) and Cardiac, were considered. CT dosimetric quantities and patient demographics were collected from data storage systems.

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience.

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant : c.

A First-Case Report of Pycnodysostosis in an Omani Boy.

Here we reported on the genetic findings of a 9-year-old Omani boy with a rare inherited bone disorder. The patient's clinical features include dysmorphic facial features, short stature, and skeletal abnormalities. Exome sequence of the patient's deoxyribonucleic acid revealed a variant in the cathepsin K gene, which was confirmed by Sanger sequencing.

Spondylo-ocular Syndrome Due to a Novel Variant in in an Omani Patient.

Spondylo-ocular syndrome (SOS) is a rare autosomal recessive disorder and affects primarily ocular and spinal tissues. This case report presented an Omani child with a novel homozygous variant, c.2070 G > A (p.