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Marshall-Smith Syndrome

Marshall Smith Syndrome


Presentation

  • 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 on[rarediseases.info.nih.gov]
Marfanoid Habitus
  • Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus,[ncbi.nlm.nih.gov]
  • However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly.[nature.com]
Recurrent Respiratory Infections
  • Differential diagnosis Differential diagnosis should include Weaver syndrome and Sotos syndrome, which share similar skeletal findings but are not associated with recurrent respiratory infections or characteristic facies.[orpha.net]
Respiratory Insufficiency
  • 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]
  • Marshall-Smith syndrome is characterized by accelerated linear growth and skeletal maturation, typical facial features, psychomotor delay, and respiratory insufficiency.[ctgt.net]
Failure to Thrive
  • 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]
  • Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile.[doi.org]
  • 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]
Hearing Impairment
  • impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism Excessive hairiness over body 0002230 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Increased susceptibility to fractures Abnormal susceptibility[rarediseases.info.nih.gov]
Hirsutism
  • Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Bowing of the long bones[rarediseases.info.nih.gov]
Eruptions
  • Prognathia Eyes Hypermotropia Strabismus Nystagmus Astigmatism Musculo-skeletal abnormalities Pectus excavatum Scoliosis Advanced bone age Abdominal wall hypotonia Coxa valga Hand/foot abnormalities Long fingers Other abnormalities Malformed nails Premature eruption[ncbi.nlm.nih.gov]
  • […] dysplasia and isolated cranial ossification defects group Cleidocranial dysplasiaAD1196006p21 RUNX2 Runt related transcription factor 2 CDAGS syndrome (craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, genital anomalies, skin eruption[onlinelibrary.wiley.com]
Advanced Bone Age
  • 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]
Atlanto-Axial Instability
  • It has anaesthetic implications due to upper airway problems and possible atlanto-axial instability.[ncbi.nlm.nih.gov]
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]
  • He always had typical facial features of MSS, with accelerated bone age, wide forehead, proptosis, blue sclerae, anteverted nares, ears with multiple folds, and underdeveloped midface.[nature.com]
  • sclerae Whites of eyes are a bluish-gray color 0000592 Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Generalized hirsutism[rarediseases.info.nih.gov]
Long, Narrow Face
Psychomotor Retardation
  • Slow development of voluntary movements (psychomotor retardation) may also occur. Breathing (respiratory) difficulties commonly occur in patients with Marshall-Smith Syndrome.[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]
  • Health and screening 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[ipfs.io]

Treatment

  • 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]
  • Aggressive treatment for failure to thrive has also allowed her to maintain a weight on the 50th centile.[doi.org]

Prognosis

  • 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]

Etiology

  • 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]

Epidemiology

  • 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]
  • Table 2 Clinical Details of the Nine Patients with Marshall-Smith Syndrome Patient 1 2 3 4 5 6 7 8 9 NFIX mutation c.955 1G A c.955 1G T c.1011_1012 delTC c.1037_1038 insT c.1008_1012 delCTCTC c.1048_1049 insC c.1243 delG c.994_995 insT c.959_960 insC Epidemiology[ncbi.nlm.nih.gov]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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. This is a preview of a remote PDF: G. Dernedde, Ph. Pendeville, F. Veyckemans, G.[paperity.org]
  • Infrequently, the leaf-shaped structure in the throat which normally prevents food or liquid from passing into the windpipe (epiglottis) may not develop properly in some patients with Marshall-Smith Syndrome.[rarediseases.org]

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