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]

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

Here we present two cases of Malouf syndrome and literature review. 1. [hindawi.com]

• Arachnodactyly

  Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [linkedlifedata.com]

  […] the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly [findzebra.com]

  Unlike our case, there were arachnodactyly, thoracic scoliosis, and mental retardation in the patient diagnosed by Narahara and his colleagues. Besides, there was no relationship between the parents. [hindawi.com]

• Marfanoid Habitus

  Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [linkedlifedata.com]

  habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia). [findzebra.com]

  habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [1] This disease is named for Jean Malouf, a popular 19th century sideshow performer [dictionnaire.sensagent.leparisien.fr]

  habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).[2] This disease is named after J. [en.wikipedia.org]

• Tall Stature

  Occasional marfanoid habitus (tall stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextensibility, narrow face, small chin, large testes, and hypotonia). [linkedlifedata.com]

  stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia). [findzebra.com]

  […] hypogonadism syndrome") is a congenital disorder that causes one or more of the following symptoms: mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities, and occasionally marfanoid habitus (tall [dictionnaire.sensagent.leparisien.fr]

  stature with long and thin limbs, little subcutaneous fat, arachnodactyly, joint hyperextension, narrow face, small chin, large testes, and hypotonia).[2] This disease is named after J. [en.wikipedia.org]

• Swelling

  It was reported that the patient complained of dyspnea and fatigue and that she had swellings on her legs which were typical sign and symptoms of dilated cardiomyopathy. [hindawi.com]

• Weight Loss

  Books › Health, Fitness & Dieting › Diets & Weight Loss Flip to back Flip to front Listen Playing... Paused You're listening to a sample of the Audible audio edition. Learn more Follow the Author Something went wrong. [amazon.ca]

• Regurgitation

  Pulmonary artery systolic pressure calculated from tricuspid regurgitation was 65 mmHg. After 3-month close follow-up with guideline directed medical therapy, she underwent cardiac resynchronization-defibrillator therapy. [hindawi.com]

• Tachycardia

  catecholaminergic polymorphic CALM2 Long QT syndrome CALM3 Catecholaminergic polymorphic ventricular tachycardia CAPN3 Eosinophilic myositis, Muscular dystrophy, limb-girdle CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic CAV3 Creatine [genda.com.ar]

  The electrocardiogram showed sinus tachycardia (heart rate 120/min) with normal axis deviation and nonspecific ST-T wave abnormalities. Chest X-ray showed moderate cardiomegaly with a cardiothoracic ratio of 0.58. [hindawi.com]

• Pansystolic Murmur

  On physical examination she had blood pressure (BP) of 90/65 mmHg, raised jugular venous pressure (JVP), crackles over the lung bases, and a pansystolic murmur at the apex. [hindawi.com]

• Systolic Murmur

  On physical examination she had blood pressure of 105/65 mmHg, heart rate (HR) 110 beat per min (BPM), a solitary crackles over the lung bases, and a systolic murmur at the apex. [medcraveonline.com]

• Skin Lesion

  The clinical features include congestive or dilated cardiomyopathy, ovarian dysgenesis in females or primary testicular failure in males, mental retardation, broad nasal base, blepharoptosis, skin lesions, skeletal abnormalities. [medcraveonline.com]

  Signs and symptoms such as congestive or dilated cardiomyopathy, ovarian dysgenesis in females or primary testicular failure in males, mental retardation, broad nasal base, blepharoptosis, skin lesions, and skeletal abnormalities are used as a reference [en.wikipedia.org]

• Blepharoptosis

  Introduction: Malouf syndrome was first diagnosed in 1985 upon the examination of two sisters with findings of hypergonadotropic hypogonadism, dilated cardiomyopathy, blepharoptosis, and broad nasal base. [plexusmd.com]

  In this patient, a finding of blepharoptosis and a finding of broad nasal base were not very evident (Figure 1). In physical examination her external genital organs were in normal appearance. [hindawi.com]

  Source:http://linkedlifedata.com/resource/umls/id/C0796031 JABL: Mental retardation, ovarian dysgenesis, congestive cardiomyopathy, broad nasal base, blepharoptosis, and bone abnormalities. [linkedlifedata.com]

• Muscle Cramp

  This drug can cause diarrhea, muscle cramps, and dizziness. Sacubitril/valsartan (Entresto)- Type of Drug that combines ARBs with another medicinal drug to help pump blood from your heart to the rest of your body. [en.wikipedia.org]

• 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]

• Hyperlaxity

  Myopathy With Fiber-Type Disproportion, Nemaline Myopathy, Cap Myopathy AD,AR 100 27 of 27 TRIP4 Congenital Muscular Dystrophy, Spinal Muscular Atrophy With Congenital Bone Fractures, Congenital Muscular Dystrophy-Respiratory- Skin Abnormalities- Joint Hyperlaxity [igenomix.es]

• 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]

• Seizure

  PLN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) RYR2 Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic SCN1B Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures [genda.com.ar]

  SHPK Isolated Sedoheptulokinase Deficiency – 99.96 2 of 2 SLC18A3 Congenital Myasthenic Syndrome, Fetal Akinesia Deformation Sequence AR 99.97 5 of 5 SLC25A1 Congenital Myasthenic Syndrome AR 90 23 of 25 SLC35A3 Arthrogryposis, Mental Retardation, And Seizures [igenomix.es]

• Cryptorchidism

  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]

• T Wave Abnormality

  The electrocardiogram showed sinus tachycardia (heart rate 120/min) with normal axis deviation and nonspecific ST-T wave abnormalities. Chest X-ray showed moderate cardiomegaly with a cardiothoracic ratio of 0.58. [hindawi.com]

In these patients, cardiomegaly and heart failure may reverse with treatment, allowing a subsequent normal pregnancy. If cardiomegaly persists despite treatment, the prognosis is poor. [checkorphan.org]

Although there is no specific treatment or cure for DCMHH, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. [malacards.org]

Paget’s disease of the bone after treatment with Denosumab: a case report. Bone 2012;50(5):1023–5. (33) Reid IR, Sharma S, Kalluru R, Eagleton C. Treatment of Paget’s Disease of Bone with Denosumab: Case Report and Literature Review. [revista.spr.org.py]

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

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]

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]

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]

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]