At birth, the child presented with asphyxia due to obstructive apnoea. His trachea was, therefore, intubated immediately. [ncbi.nlm.nih.gov]

Clinical features At birth, the child presented with asphyxia due to obstructive apnoea. His trachea was, therefore, intubated immediately. [paperity.org]

• Tall Stature

  stature Increased body height 0000098 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Umbilical hernia 0001537 Showing of 75 | Last updated: 6/1/2019 While most of the literature available [rarediseases.info.nih.gov]

• Respiratory Distress

  Conclusion Severe airway obstruction due to congenital anomalies must be excluded in any dysmorphic child presenting with respiratory distress at birth. [doi.org]

  Both had significant and fatal respiratory distress attributable to this condition. [ncbi.nlm.nih.gov]

  The clinical course is marked mainly by pneumonia, stridor, respiratory distress, and death. The aetiology is unknown. The mode of inheritance is uncertain, most cases are sporadic. [whonamedit.com]

• Failure to Thrive

  MRSHSS Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome MRSHSS edit English Marshall–Smith syndrome syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, [wikidata.org]

  It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology. [ncbi.nlm.nih.gov]

  Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising of the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. [radiopaedia.org]

• Hearing Impairment

  impairment Deafness Hearing defect [ more ] 0000365 Hypertension 0000822 Hypoplasia of the odontoid process 0003311 Irregular dentition Irregular teeth 0040079 Large sternal ossification centers 0006642 Laryngomalacia Softening of voice box tissue 0001601 [rarediseases.info.nih.gov]

  Ear anomalies include microtia, accessory preauricular tags and/or pits, and middle ear defects with hearing impairment ( picture 1 ) [ 2 ]. Facial nerve involvement leads to hypoplasia of the facial muscles. [uptodate.com]

• Hirsutism

  Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). [1] [2] [3] MRSHSS is caused by mutations in the NFIX gene. [rarediseases.info.nih.gov]

• Advanced Bone Age

  KEYWORDS: Advanced bone age; Aortic root dilatation; Marshall-Smith syndrome; Novel pathogenic variant; Precocious puberty [ncbi.nlm.nih.gov]

  From Wikidata Jump to navigation Jump to search syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation Marshall-Smith syndrome MARSHALL-SMITH SYNDROME; [wikidata.org]

• Blue Sclera

  sclerae, depressed nasal bridge, and micrognathia. [ncbi.nlm.nih.gov]

  Clinical description The disorder associates several dysmorphic signs, including prominent forehead, bulging eyes, blue sclerae, anterversed nostrils and micrognathia. [orpha.net]

  Definition A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed [uniprot.org]

  Sleep apnea may also be associated. [4] Other common signs and symptoms are: [1] [2] [4] A blue tint to the whites of the eyes (blue sclera) An abnormal curve in the spine ( scoliosis and kyphosis) Loss of tissue in the gums Heart defects, such as a hole [rarediseases.info.nih.gov]

• Long Narrow Face

  narrow face, or arachnodactyly. [ncbi.nlm.nih.gov]

• Psychomotor Retardation

  Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation. Slow development of voluntary movements (psychomotor retardation) may also occur. [rarediseases.org]

  Pneumonia [ 4 ] Failure to thrive [ 4 ] Psychomotor retardation [ 4 ] Respiratory complications are often cause of death in early infancy. [ 2 ] Alternate names Translated English: Marshall-Smith syndrome Español: Síndrome de Marshall-Smith Français: [dictionnaire.sensagent.leparisien.fr]

  Diagnosis [ edit ] Clinical course Respiratory difficulties (like upper airway obstruction. [6] (Note regarding clinical variability: respiratory difficulties might be absent. [3] ) Pneumonia [4] Failure to thrive [4] Psychomotor retardation [4] Respiratory [en.wikipedia.org]

After considering quality-of-life issues for the patient, surgical treatment was offered for facial dysmorphism. This type of effort has not yet been reported in the literature. [ncbi.nlm.nih.gov]

Management and treatment There is no specific treatment for the syndrome. Malnutrition and respiratory infections should be treated symptomatically. Prognosis The prognosis is poor and the disorder is usually fatal within the first years of life. [orpha.net]

Treatment Long hospital care involving treatment for severe respiratory problems is usually necessary for Marshall-Smith syndrome. [medigest.uk]

[…] fetal macrosomia failure to thrive skeletal accelerated skeletal maturation craniofacial dysmorphic facial features prominent eyes bluish sclerae coarse eyebrows upturned nose mental retardation respiratory difficulties Genetics most cases are sporadic Treatment [radiopaedia.org]

Prognosis The prognosis is poor and the disorder is usually fatal within the first years of life. A few cases of prolonged survival have been reported in patients without respiratory complications and are associated with intellectual deficit. [orpha.net]

Although the prognosis has been poor to date, early recognition and aggressive multi-disciplinary therapy may permit further investigation into the cause and appropriate management of this disorder. [ncbi.nlm.nih.gov]

[…] failure to thrive skeletal accelerated skeletal maturation craniofacial dysmorphic facial features prominent eyes bluish sclerae coarse eyebrows upturned nose mental retardation respiratory difficulties Genetics most cases are sporadic Treatment and prognosis [radiopaedia.org]

It is hoped that the etiology of the syndrome will be discovered as more cases are recognized and reported by pediatricians caring for infants with failure to thrive, advanced bone age, and chronic respiratory symptomatology. [ncbi.nlm.nih.gov]

Etiology The cause of this disease remains unknown. Diagnostic methods Diagnosis depends on close examination of the clinical findings and X-ray examinations. [orpha.net]

Summary Epidemiology The prevalence is unknown but around 30 cases have been reported in the literature. [orpha.net]

Differences between Vitamins K1 and K2 A large epidemiological study from the Netherlands illustrates this point well. [chriskresser.com]

Am J Ind Med 2001, 39 (3): 276-85 Villeneuve P, Agnew DA, Johnson KC, Mao Y and the Canadian Cancer Registries Epidemiology Research Group. [poliklinika-harni.hr]

Epidemiology Frequency Prune belly syndrome affects 1 per 30,000-40,000 live births. Approximately 3-4% of all prune belly syndrome cases occur in females. [emedicine.medscape.com]

Pathophysiology In individuals with Raynaud phenomenon, one or more body parts experience intense vasospasm with associated color change and subsequent hyperemia. [emedicine.medscape.com]

Subchronic Exposure to 2,3,7,8-Tetrachlorodibenzo-p-dioxin Modulates the Pathophysiology of Endometriosis in the Cynomolgus Monkey. Toxicol Sci 2000; 56: 374-381 Demers A, Ayotte P, Brisson J, Dodin S, robert J, Dewailly E. [poliklinika-harni.hr]

The roles of transcription factor NFIX are becoming evident, particularly in the development of the brain, skeletal muscle, and hematopoietic system; 9, 10, 11, 12 however, the pathophysiological roles of NFIX in vessels remain elusive. [nature.com]

The use of an NPA during both induction and recovery of anaesthesia may be particularly useful to prevent upper airway problems in children with MSS. [ncbi.nlm.nih.gov]

Conclusion The use of an NPA during both induction and recovery of anaesthesia may be particularly useful to prevent upper airway problems in children with MSS. [paperity.org]

Since TIVA can enable a calm emergence from anesthesia, it is likely to contribute to the prevention of bone fractures. [jstage.jst.go.jp]