Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.

Jeune syndrome is an autosomal recessive chondrodysplasia characterized by skeletal deformities and extra-skeletal organ involvement. Retinal astrocytic hamartomas (astrocytomas) are benign glial cell 10 15 Q1 tumors that are generally asymptomatic and diagnosed incidentally. The IFT74 gene is responsible for the formation of IFT proteins, which play a major role in ciliogenesis.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

A subset of genetic conditions, particularly skeletal dysplasias, comprises a heterogeneous group of inherited disorders characterized by abnormal bone development, joint stiffness, and short stature. Their musculoskeletal manifestations frequently mimic those of rheumatic diseases, especially Juvenile Idiopathic Arthritis (JIA), complicating accurate diagnosis. We conducted a comprehensive clinical, radiological, and molecular evaluation of 47 individuals (23 males, 24 females) from 22 distinct families who presented primarily with non-inflammatory musculoskeletal complaints.

First Report of a Novel Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.

Introduction: Weiss-Kruszka syndrome is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the , located at chromosome 9p31.2. Clinically, it is characterized by craniofacial dysmorphism, global developmental delay, intellectual disability, short stature, congenital anomalies of the heart and brain, and feeding difficulties.

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.

Introduction: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive craniofacial features, growth deficiencies, and broad thumbs and halluces. Most diagnoses are made through sequence analysis of the or genes. Here we focused on two cases diagnosed through chromosomal microarray analysis (CMA), highlighting the significance of genetic variations in RSTS.

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.

Introduction: Kniest dysplasia is a rare skeletal disorder, characterized by mild dysmorphic features, cleft palate, short stature, short limbs, prominent joints, restricted joint mobility, hearing impairment, and ocular manifestations such as high-degree myopia, retinal detachment, and cataract. Typical radiological findings include platyspondyly, coronal clefts, and dumbbell-shaped long tubular bones.

Case Presentation: Herein, we report on an 8-month-old boy who was referred to the pediatric genetic department due to narrow thorax and short extremities.

Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort.

Background: DiGeorge Syndrome (DGS), a microdeletion syndrome, shows a broad spectrum from mild T-cell lymphopenia to severe combined immunodeficiency.

Aim: To define the clinical/immunophenotypical biomarkers for DGS.

Patients And Methods: A total of 72 patients with 22q11.

Desbuquois dysplasia and cardiovascular complications: a retrospective cohort study.

Unlabelled: Desbuquois dysplasia (DBQD) is a rare autosomal recessive chondrodysplasia characterized by distinct skeletal abnormalities and multisystem involvement. Cardiac manifestations, such as aortic root dilatation and mitral valve prolapse, have also been reported, likely due to impaired proteoglycan production. This study aims to enhance the understanding of clinical management and cardiac implications in patients with DBQD, contributing to the broader knowledge of this rare condition.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

KBG syndrome is a rare autosomal dominant disorder caused by ANKRD11 variants, characterized by distinctive craniofacial features, short stature, skeletal anomalies, and neurodevelopmental impairment. Regional studies, particularly from underrepresented populations, are essential to broaden the clinical and molecular spectrum of the syndrome. We retrospectively analyzed the clinical, molecular, and anthropometric data of 23 Turkish individuals with molecularly confirmed KBG syndrome.

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia.

Unlabelled: Multiple epiphyseal dysplasias are relatively common skeletal disorders, and diagnosing children can often be challenging due to various presenting complaints, including joint pain, short stature, waddling gait, joint deformities, and myopathy findings. Patients may experience early-onset osteoarthritis, and in some cases, joint replacement therapy may be required. Radiographs are characterized by flat, small, and irregularly shaped epiphyses, especially in the hips and knees.

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel variant.

The latent transforming growth factor-beta-binding protein 3 (, which encodes one of the extracellular matrix proteins, plays an essential role in skeletal formation through both stimulatory and inhibitory effects on the growth of different cell types, as well as on the production and degradation of the extracellular matrix. Pathogenic variants in have been associated with genetic skeletal disorders that exhibit various cardiovascular features, including aortic root dilatation, aneurysm or dissection of the ascending and descending aorta, and mitral valve prolapse). Aortic root dilatation, an aortopathy that may have lifethreatening consequences, is among the clinical findings in various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula.

Purpose: Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include aortopathy and atrioventricular valve prolapse, potentially due to defective proteoglycan production.

Case Report: This case report details a 7-year-old male diagnosed with Desbuquois dysplasia type 1 and a coronary-cameral fistula, both of which are exceedingly rare conditions.

ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.

We report a case of multiple suture craniosynostosis in a patient with hypochondroplasia. The patient presented with short stature marked by a relatively long trunk and short extremities. The clinical and radiological findings were suggestive of hypochondroplasia.

Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?

To date there have been multiple clinical reports of pediatric patients with Williams Beuren syndrome developing non-Hodgkin lymphoma. However, there is no clear evidence of an association between this microdeletion syndrome and lymphoma risk and as of yet there are no recommendations for cancer surveillance in the follow-up of these patients. In this report we descibe two patients with Williams Beuren syndrome, both of whom were diagnosed with non-Hodgkin lymphoma, one at the age of 2 years and the other at the age of 6 years during clinical follow-up.

Unraveling the Role of RSPRY1 in TGF-β Pathway Dysregulation: Insights into the Pathogenesis of Spondyloepimetaphyseal Dysplasia.

Skeletal dysplasias, characterized by bone, cartilage, and connective tissue abnormalities, often arise due to disruptions in extracellular matrix (ECM) dynamics and growth factor-dependent signaling pathways. RSPRY1, a secreted protein with RING and SPRY domains, has been implicated in bone development, yet its exact role remains to be determined. gene mutations are associated with spondyloepimetaphyseal dysplasia (SEMD), a rare skeletal disorder characterized by severe epiphyseal and metaphyseal deformities.

A Case of Opsismodysplasia with a Novel Variant.

Introduction: Opsismodysplasia is a rare autosomal recessive genetic skeletal disorder characterized by short stature, short limbs, small hands and feet, delayed bone age, severe platyspondyly, metaphyseal cupping, and facial dysmorphism. Opsismodysplasia is caused by biallelic variants in the gene. Only 38 patients with a confirmed molecular diagnosis have been reported so far.

Complex Congenital Cardiac Defect Associated with the Combination of 5p Deletion and 4q Duplication in a Newborn: A Case Report.

Introduction: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.

Case Presentation: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles.

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Unlabelled: 3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases.

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

Multiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular-shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in COMP, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2.

Ex vivo disease modelling of Rett syndrome: the transcriptomic and metabolomic implications of direct neuronal conversion.

Background: Rett syndrome (RTT) is a rare neurodevelopmental disorder that primarily affects females and is characterized by a period of normal development followed by severe cognitive, motor, and communication impairment. The syndrome is predominantly caused by mutations in the MECP2. This study aimed to use comprehensive multi-omic analysis to identify the molecular and metabolic alterations associated with Rett syndrome.

A Novel Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Introduction: Primrose syndrome (PS; MIM #259050) is a rare autosomal dominant genetic condition characterized by macrocephaly with or without tall stature, hypotonia, moderate to severe intellectual disability (ID) with delay in expressive speech development, behavioral abnormalities, and a recognizable facial phenotype including deep set eyes, ptosis, narrow and frequently downslanting palpebral fissures, and depressed nasal bridge. PS is caused by a heterozygous pathogenic variant in (MIM #606025) on chromosome 3q13. Among other characteristic findings are ocular abnormalities, hearing loss, calcification of the external ear cartilage, nonspecific brain magnetic resonance imaging findings, and cryptorchidism.

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with and Variants.

Introduction: Diencephalic-mesencephalic junction dysplasia syndrome is a rare neurogenetic disorder reported to be caused by variants in several genes. Phenotypic presentation is characterized by clinical findings including developmental delay, hypotonia, spasticity, and dyskinetic movements in combination with distinctive imaging features on brain magnetic resonance imaging (MRI).

Methods: Whole exome sequencing was conducted to unveil the molecular etiology of patients presenting with neurological manifestations from two unrelated families.

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked.

Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017.

Review of patients with achondroplasia: a single-center's experience with follow-up and associated morbidities.

Achondroplasia (ACH; MIM #100,800), caused by a heterozygous gain of function pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3; MIM*134,934), is the most prevalent and most readily identifiable cause of disproportionate short stature that is compatible with life. In addition, individuals with achondroplasia face significant medical, functional, and psychosocial challenges throughout their lives. This study assessed associated morbidities in patients with achondroplasia at a single center in Turkey.