Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in , with disease severity influenced by the number of copies. Although SMA is one of the most common autosomal recessive disorders, molecular diagnosis still presents challenges. We present a case series illustrating the variable clinical presentations and diagnostic complexities of spinal muscular atrophy (SMA).

Plaque-like cutaneous mucinosis associated with pain: A case report.

Plaque-like cutaneous mucinosis (PCM) is a rare atypical subtype of Lichen myxedematosus, characterized by hyperpigmented plaques typically found on the midline trunk. We report the case of a 26-year-old woman with a 1-year history of painful, pruritic, hyperpigmented plaques over her spine. Physical examination revealed soft plaques in the midline of the back, and histopathology showed dermal mucin deposition, consistent with PCM.

A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report.

The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and several regulatory proteins. Pathogenic variants in these components cause cohesinopathies, with common clinical features including facial dysmorphism, delayed growth, developmental delay, and limb anomalies.

The complexity of phosphatase and tensin homolog hamartoma tumor syndrome: A case report.

Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying degrees of symptom severity, many individuals with phosphatase and tensin homolog hamartoma tumor syndromes might remain undiagnosed for an extended period. We describe a case of a male child who received the diagnosis at the age of 12.

A founder pathogenic variant resulting in Alport syndrome and thin basement membrane disease: a case report series.

Alport syndrome is a rare genetic condition characterized by kidney disease, hearing impairment, and ocular abnormalities. It exhibits various inheritance patterns involving pathogenic variants in , , and genes. The phenotypes can range from isolated hematuria with a non-progressive or very slowly progressive course to progressive kidney disease with extrarenal abnormalities.

A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the gene: A case report.

Chopra-Amiel-Gordon syndrome (OMIM: 619504) is an autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, speech delay, epilepsy, dysmorphic craniofacial features, ophthalmological abnormalities, and recurrent infections. It is caused by heterozygous loss-of-function pathogenic variants in the gene, which codes for an ankyrin repeat-containing protein. Currently, about 35 cases of Chopra-Amiel-Gordon syndrome are described in the medical literature.

MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.

MSMO1 deficiency (OMIM #616834) is an ultrarare autosomal recessive disorder of distal cholesterol metabolism with only five cases reported to date. The disorder is caused by missense variants in the MSMO1 gene encoding methylsterol monooxygenase 1, leading to the accumulation of methylsterols. Clinically, MSMO1 deficiency is characterized by growth and developmental delay, often in association with congenital cataracts, microcephaly, psoriasiform dermatitis and immune dysfunction.

A de novo chromosome 9p duplication in a female child with short stature and developmental delay.

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features.

First case report of Nager syndrome patient from Georgia.

Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous.