The phenotype varies and not all features are present in every individual case. [medcraveonline.com]

In this study, we present the case of a young female patient with DCM-HH, including the genetic analysis of the LMNA gene. [spandidos-publications.com]

Here we present two cases of Malouf syndrome and literature review. 1. [ncbi.nlm.nih.gov]

Here we present two typical cases of Malouf syndrome. Case: In Figure 1, Twenty-six-year-old women presented to our clinic with a complaint of amenorrhea. She was 165?cm in height and 65?kg in weight. [plexusmd.com]

Males may present with primary testicular failure, hypospadias/epispadias, micropenis, cryptorchidism or testicular atrophy, and bifid hypoplastic scrotum. Females may present with ovarian dysgenesis, hypoplastic uterus, and amenorrhea. [accessanesthesiology.mhmedical.com]

• Orthopnea

  At the time of admission the patient exhibited dyspnea, orthopnea and lethargy. [spandidos-publications.com]

• Normal Stature

  The first-degree relatives of the patient had experienced normal puberties and were of normal statures. There was no family history of menstrual disorders or dysmorphic features. [spandidos-publications.com]

• Sloping Shoulders

  Additional signs are chest disorder (as a narrow “keeled breast”, sloping shoulders) and adipose tissue deficit. Micrognathia and sloping shoulders may mimic atypical progeroid phenotype. [medcraveonline.com]

• Suggestibility

  Case Report of Malouf Syndrome not Associated with Lmna Gene Mutation Medicine, Biology 2016 The sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism and primary amenorrhea is reported, suggesting that molecular [semanticscholar.org]

  The clinical data suggested a laminopathy. Targeted next-generation sequencing was used to search for mutations in genes, associated with cardiomyopathy, including LMNA. [medcraveonline.com]

  Genetic inheritance Autosomal recessive inheritance has been suggested. Parental consanguinity seems to be a significant risk factor. The defect seems to be caused by mutations in the LMNA gene (Lamin A) that has been mapped to chromosome 1q22. [accessanesthesiology.mhmedical.com]

  The parents of the sisters were first-degree cousins, suggesting the possibility of a genetic disorder.[3] In 1992, a new case study of an 18-year-old female conducted by Narahara et al. resulted in similar findings as Malouf.[4] Although the prevalence [en.wikipedia.org]

• Primary Amenorrhea

  Case Report of Malouf Syndrome not Associated with Lmna Gene Mutation Medicine, Biology 2016 The sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism and primary amenorrhea is reported, suggesting that molecular [semanticscholar.org]

  The patient had primary amenorrhea without the somatic stigmata of Turner’s syndrome. The secondary sexual characters of the patient were undeveloped. [medcraveonline.com]

  The patient had primary amenorrhea without the somatic stigmata of Turner’s syndrome. The secondary sexual characteristics of the patient were undeveloped, including breast, pubic and axillary hair stages (Tanner stage B1, P1 and A1). [spandidos-publications.com]

• Left Axis Deviation

  The 12-lead electrocardiogram (ECG) showed sinus tachycardia (heart rate 104 BPM) with left axis deviation, left bundle branch block (QRS duration 124ms), normal corrected QT interval and nonspecific ST-T wave abnormalities. [medcraveonline.com]

^ "Treatment Options for Hypogonadism". [en.wikipedia.org]

DCM patients with LMNA mutations have poor prognosis due to life-threatening ventricular tachyarrhythmias, progressive heart failure and high risk of sudden cardiac death. [medcraveonline.com]

The adult respiratory distress syndrome; definition and prognosis; pathogenesis and treatment. Br J Anaesth 1990; 65: 107–129. Google Scholar | Crossref | Medline 5. Seeper, W., Schneider, U., Kreusler, B. [journals.sagepub.com]

If cardiomegaly persists despite treatment, the prognosis is poor. Dilated cardiomyopathy occurs in 2 of every 100 people and affects all ages and sexes. It’s most common in adult men. [checkorphan.org]

Aortic Dissection: New Frontiers in Diagnosis and Management: Part I: from etiology to diagnostic strategies. Circulation 2003; 108 (5): 628-35. [ Links ] 4. Maraj R, Rerkpattanapipat P, Jacobs L, Makornwattana P, Kotler M. [scielo.cl]

The molecular etiology remains unknown in other indicated cases.1,2,7,8 Detection of such clinical cases indicates other genetic involvement in the pathogenesis of the Malouf syndrome. [medcraveonline.com]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Epidemiology. Dilated Cardiomyopathy: From Genetics to Clinical Management. Springer. pp. 11–16. doi:10.1007/978-3-030-13864-6_2. ISBN 978-3-030-13863-9. PMID 32091720. External links[edit] [en.wikipedia.org]

Clinical and pathophysiologic significance. Am Rev Respir Dis 1986; 133: 218–225. Google Scholar | Medline 15. Rinaldo, J.E., Borovetz, H. [journals.sagepub.com]

Diabetes and the Metabolic Syndrome Eating for the Prevention and Treatment explains in an easy to understand way, to the health professional and lay person, how important the Metabolic Syndrome is in managing diabetes. [goodreads.com]

This medication may also prevent the harmful effects of stress hormones. Some of the side effects of this medication include dizziness and low blood pressure. [en.wikipedia.org]