Cutis laxa and fatal pulmonary hypertension
| العنوان: | Cutis laxa and fatal pulmonary hypertension |
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| المؤلفون: | Yvette R. Johnson, Zsolt Urban, Lorraine Potocki, Ron A. Wevers, Pasquale Piccolo, Eva Morava, Megan McGuirk, Megan K. Dishop, Nicola Brunetti-Pierri |
| المساهمون: | BRUNETTI PIERRI, Nicola, Piccolo, P, Morava, E, Wevers, Ra, Mcguirk, M, Johnson, Yr, Urban, Z, Dishop, Mk, Potocki, L. |
| المصدر: | Clinical Dysmorphology, 20, 2, pp. 77-81 Clinical Dysmorphology, 20, 77-81 |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2011. |
| سنة النشر: | 2011 |
| مصطلحات موضوعية: | Male, Connective Tissue Disorder, Pathology, medicine.medical_specialty, Hypertension, Pulmonary, α2 subunit, Neuroinformatics [DCN 3], Cutis Laxa, Oligohydramnios, Article, Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Fatal Outcome, Pregnancy, Cryptorchidism, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Fetal Growth Retardation, business.industry, Infant, Newborn, Inelastic skin, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Euthanasia, Passive, Pulmonary hypertension, Molecular analysis, Withholding Treatment, Pediatrics, Perinatology and Child Health, Female, Anatomy, Perception and Action Glycostation disorders [DCN 1], business, Hernia, Umbilical, Cutis laxa |
| الوصف: | Cutis laxa is a connective tissue disorder with distinctive lax, redundant, and inelastic skin. It is a genetically heterogenous disorder with autosomal dominant and recessive patterns of inheritance. We report a patient with cutis laxa supported by clinical, microscopic, and ultrastructural findings. Molecular analysis of fibulin-4 and -5, of the α2 subunit of the V-type H+ ATPase, and of the component of the oligomeric Golgi complex 7 (COG7) genes excluded the type I and type II autosomal recessive forms of cutis laxa, and congenital disorders of glycosylation associated with cutis laxa. Remarkably, our patient also presented severe and lethal pulmonary hypertension as a newborn. This case with cutis laxa, severe pulmonary hypertension, and no detectable mutations in fibulin-4 and -5 genes may represent a previously unrecognized syndrome. ispartof: Clinical Dysmorphology vol:20 issue:2 pages:77-81 ispartof: location:England status: published |
| وصف الملف: | Print; application/pdf |
| تدمد: | 0962-8827 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ef4ea1e89c3334e7375d9542149979Test https://doi.org/10.1097/mcd.0b013e3283439676Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....72ef4ea1e89c3334e7375d9542149979 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09628827 |
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