Neonatal Marfan Syndrome: A Rare, Severe, and Life-Threatening Genetic Disease

A 36  weeks of gestational age newborn was admitted to the neonatal intensive care unit because of fetal diagnosis of dilated myocardiopathy. At admission, phenotypic features were noticed; specifically, she had a dolichocephalic skull shape, “senile” facial appearance, narrow forehead with low hair implantation, low ear implantation, blepharophimosis, retrognathia, and ogival palate. In addition, arachnodactyly was noted on hands and feet and multiple joint contractures in flexion (Figure 1), narrow thorax, and umbilical hernia.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Rediscovering the Physical Exam Source Type: research

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The devices cut into tissue and nerves, leaving some unable to walk, work or care for their children.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
CONCLUSION: Morgagni hernias are amenable to minimally invasive repair with this simple technique. With large defects, synthetic patches should be used. Recurrences are rare, and morbidity is low. PMID: 31926567 [PubMed - in process]
Source: The Permanente journal - Category: General Medicine Tags: Perm J Source Type: research
CONCLUSIONS: All together, our results suggest sterile inflammation as a novel paradigm to disease progression, and we identify, for the first time, monocytes as a viable candidate for targeted therapy in MVD. PMID: 31928435 [PubMed - in process]
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
Jeremy Norton, from Wigston, Leicestershire, has Marfan syndrome, where the connective tissue throughout the body is too fragile. As a result, the walls of the aorta can become weakened.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
We report a case of Fryns Syndrome who was incidentally found to have Edward Syndrome as well. Such an extremely rare combination is yet to be reported in medical literature.Also with updated genetic studies, better diagnostics and treatment options coming up in future, there are chances to improve the survivability of these babies. It is prudent to document all such cases to aid in better understanding of the disease process.
Source: Medical Journal Armed Forces India - Category: General Medicine Source Type: research
Marfan Syndrome (MFS) is a heritable connective tissue disorder with a high degree of clinical variability including respiratory diseases; a rare case of MFS with massive intrathoracic bleeding has been report...
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Case report Source Type: research
CONCLUSIONS: Medicaid-enrolled children receiving anesthesia for a single common pediatric surgical procedure under age 5 years were 37% more likely to require subsequent persistent use of ADHD medications than unexposed children. Because the increased use of ADHD medication is disproportionately higher than that of nonpsychotropic medications, unmeasured confounding may not account for all of the increase in ADHD medication use. By evaluating Medicaid data, this study assesses children who may be particularly vulnerable to neurotoxic exposures. PMID: 31923004 [PubMed - as supplied by publisher]
Source: Anesthesia and Analgesia - Category: Anesthesiology Authors: Tags: Anesth Analg Source Type: research
CONCLUSION: The development of the third episode of pneumothorax led to the diagnosis of Marfan's syndrome thanks to the patient's combination of symptoms. To avoid diagnostic delay, criteria were established in 1996 and revised in 2010 to ensure an early diagnosis of this condition. PMID: 31883816 [PubMed - as supplied by publisher]
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
Authors: Plachý L, Elblová L, Neuman V, Fencl F, Bláhová K, Straňák Z, Lebl J, Průhová Š Abstract Overgrowth syndromes are rare genetic disorders characterized by excessive pre- and postnatal growth accompanied by dysmorphic features and developmental disorders. In addition to other health hazards, the life expectancy of affected children may be compromised due to an increased risk of developing tumors. To demonstrate the need for early recognition, correct diagnostic evaluation and adequate follow-up, we present a family with recurrent Simpson-Golabi-Behmel syndro...
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research
We report a 12-day-old male who was admitted with vomiting because of an unusual early complication of Marfan's syndrome (MS): a sliding hiatal hernia. Initial ultrasound showed no stomach at its normal position and the chest X-ray presented an intrathoracic gas bubble with the nasogastric tube inside. An upper gastrointestinal contrast study confirmed the complete herniation of the stomach into the thorax. Via an exploratory laparotomy it was carefully reintroduced into the abdomen, following a hiatal reconstruction. A Thal fundoplication and a gastrostomy were also performed to guarantee its fixation. Although characteri...
Source: European Journal of Pediatric Surgery Reports - Category: Surgery Authors: Tags: Case Report Source Type: research
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