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

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

• Saddle Nose

  Synonyms of Marshall Syndrome deafness-myopia-cataract-saddle nose, Marshall type General Discussion Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. [rarediseases.org]

• 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 failure to thrive respiratory tract pathology advanced skeletal maturation immunodeficiency Received December 28, 1981. Accepted May 6, 1982. [pediatrics.aappublications.org]

• Constipation

  Chronic constipation has been attributed to a decrease in abdominal wall pressure, which is necessary to aid in evacuation. [emedicine.medscape.com]

  Genetic literature suggests that feeding difficulties improve with age, which implies that gastrostomy tubes may not be required throughout life. [2] Complex gastroenterology problems: Malrotation and Constipation. [bohring-opitz.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

  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]

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

  Abstract Marshall–Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. [doi.org]

• Fracture

  We describe a 7-year-old girl who, in addition to meeting these criteria for Marshall-Smith syndrome, had multiple fractures and skeletal anomalies. [ncbi.nlm.nih.gov]

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

  Abnormal susceptibility to fractures Bone fragility Frequent broken bones Increased bone fragility Increased tendency to fractures [ more ] 0002659 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Protruding [rarediseases.info.nih.gov]

• Osteopenia

  These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia [ncbi.nlm.nih.gov]

  […] with heterozygous mutations in the LRP5 gene Cole-Carpenter dysplasia (bone fragility with craniosynostosis)SP112240 See also craniosynostosis syndromes in group 30 Spondylo-ocular dysplasiaAR605822 Unlinked to collagen 1 and collagen 2 genes or LRP5 Osteopenia [onlinelibrary.wiley.com]

• 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]

• Visual Impairment

  impairment and prolonged survival in a girl with Marshall-Smith syndrome. ( 16531739 ) Deshpande C....Paterson J. 2006 17 Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. ( 16086394 [malacards.org]

  Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome. Clin Dysmorphol. 2006 Apr;15(2):111-113. [5] Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall-Smith syndrome. [bionity.com]

  "Visual impairment and prolonged survival in a girl with Marshall-Smith syndrome". Clin Dysmorphol. 15 (2): 111–113. doi:10.1097/01.mcd.0000194408.30794.2f. PMID 16531739. Diab, M., Raff, M., Gunther, D.F. (2002). [liquisearch.com]

  Anaesthetic management of a child with Marshall-Smith syndrome Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J (Apr 2006). [ Expression error: Missing operand for > "Visual impairment and prolonged survival in a girl with Marshall-Smith [dictionnaire.sensagent.leparisien.fr]

• Depressed Nasal Bridge

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

  […] cavity 0000452 Death in childhood 0003819 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal [rarediseases.info.nih.gov]

• Short Nose

  […] distal phalanx of finger Short outermost finger bone 0009882 Short mandibular rami 0003778 Short philtrum 0000322 Short sternum 0000879 Sporadic No previous family history 0003745 Synophrys Monobrow Unibrow [ more ] 0000664 Tall stature Increased body [rarediseases.info.nih.gov]

• Psychomotor Retardation

  Accompanied by severe respiratory problems that are often fatal during the first year of life, mental retardation, hypotonia, muscle weakness, and psychomotor retardation. [accessanesthesiology.mhmedical.com]

  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 [3] Failure to thrive [3] Psychomotor retardation [3] Respiratory complications are often cause of death in early infancy. [5] Treatment See for example sections Case report and Research. [bionity.com]

  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]

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]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

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]

The purpose of this report is to suggest that early diagnosis and aggressive management may improve the ultimate prognosis with respect to the respiratory and feeding difficulties seen in this rare syndrome. [doi.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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

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

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

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]