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Dental enamel defects and oral cavity manifestations in Asian patients with celiac disease
BackgroundWhile the small intestine is the main site of disease, many other organs are affected by celiac disease (CeD). Dental enamel defects (DED)...
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Predictive and diagnostic measures for kernicterus spectrum disorder: a prospective cohort study
BackgroundKernicterus spectrum disorder (KSD) resulting from neonatal hyperbilirubinemia remains a common cause of cerebral palsy worldwide. This...
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Maxillary canine position of patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
BackgroundThe study evaluates the position and displacement tendency of unerupted maxillary canines in orthodontic patients with non-syndromic...
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Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review
BackgroundTuberous sclerosis complex (TSC) is a rare, complex genetic disorder characterized by hamartomas and neoplastic lesions in various organ...
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Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1
PurposeAutoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator ( AIRE )...
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Bilirubin Encephalopathy
Purpose of ReviewHyperbilirubinemia is commonly seen in neonates. Though hyperbilirubinemia is typically asymptomatic, severe elevation of bilirubin...
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Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity
BackgroundAlström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants...
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Rosacea in children: a review
Rosacea is a facial inflammatory disorder that shows an increasing incidence with age. While rosacea is common > 60 years of age, pediatric rosacea...
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CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review
C-terminal binding proteins (CtBP1/2) are transcriptional coregulators that play a significant role during vertebrate neurodevelopment. This...
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Mucocutaneous Manifestations of Recreational Drug Use
Recreational drug use is increasingly common in the dermatology patient population and is often associated with both general and specific...
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Kernicterus Spectrum Disorders Diagnostic Toolkit: validation using retrospective chart review
BackgroundKernicterus Spectrum Disorders (KSDs) result from hyperbilirubinemia-induced brain injury. We developed a Toolkit (KSD-TK) to predict the...
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Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
BackgroundShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first...
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A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
BackgroundJunctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons...
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The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
Hypophosphatasia (HPP) is a rare genetic disorder in which pathogenic variants of the ALPL gene lead to a marked decrease of tissue non-specific...
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Tuberous sclerosis complex: a case report and literature review
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old...
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Dynamical properties of elemental metabolism distinguish attention deficit hyperactivity disorder from autism spectrum disorder
Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental conditions of overlap** etiologies and...
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Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder
Neurodevelopmental regression (NDR) is a subtype of autism spectrum disorder (ASD) that manifests as loss of previously acquired developmental...
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Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
BackgroundPatients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic...
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A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV)
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is...
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Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal...
