Congenital hemangioma in spondylocostal dysostosis: a novel association [PDF]
Anais Brasileiros de Dermatologia, 2016 Congenital hemangioma is a benign tumor caused by dysfunction in embryogenesis and vasculogenesis, which progresses during fetal life to manifest as fully developed at birth.
Victor Michael Salinas-Torres
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Crouzon syndrome in a ten-week-old infant: A case report
Saudi Journal of Medicine and Medical Sciences, 2020 Crouzon syndrome is a rare genetic disorder. We report a rare case of Crouzon syndrome in a very young infant with distinct features of craniofacial malformations.
Sangeeta Gupta +4 more
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Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB. [PDF]
JIMD RepABSTRACT Mucopolysaccharidosis Type IV is a multisystem lysosomal storage disease characterized by severe skeletal dysplasia resulting from impaired degradation of the glycosaminoglycans keratan sulfate and chondroitin‐6‐sulfate. The condition is classified into Types A and B based on the underlying enzyme deficiency.
Wijnen M +5 more
europepmc +2 more sources
Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
Вопросы современной педиатрии, 2016 Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the ...
Nato D. Vashakmadze +9 more
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A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. [PDF]
, 2014 Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In
BOTTILLO, IRENE +7 more
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JIMD Reports, 2021 Background Morquio B disease (MBD) is a distinct GLB1‐related dysostosis multiplex presenting a mild phenocopy of GALNS‐related Morquio A disease. Previously reported cases from European countries carry the W273L variant on at least one GLB1 allele and ...
Sylvia Stockler‐Ipsiroglu +14 more
doaj +1 more source
Clinical genetics of spondylocostal dysostosis: A mini review
Frontiers in Genetics, 2022 Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such ...
Muhammad Umair +5 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
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Delayed eruption of permanent dentition and maxillary contraction in patients with cleidocranial dysplasia: review and report of a family [PDF]
, 2018 Introduction. Cleidocranial dysplasia (CCD) is an inherited disease caused by mutations in the RUNX2 gene on chromosome 6p21. This pathology, autosomal dominant or caused by a spontaneous genetic mutation, is present in one in one million individuals ...
Barbato, E. +5 more
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Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. [PDF]
, 2013 Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests
A Goel +78 more
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