Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

A long list of syndromic entities can be diagnosed immediately through scrutinizing the clinical phenotype of the craniofacial features. The latter should be assisted via proper radiological interpretations. Different children aged from 1 month to 12 years were referred to our departments seeking orthopedic advice.

A rare homozygous p.Arg87Trp variant of the gene in Gaucher disease: A case report.

Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the gene in the Tunisian population.

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Background: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1.

Methods: Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype-phenotype correlations.

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Background: Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979.

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Background: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting.