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Abnormal tracheobronchial morphology

MedGen UID:
867271
Concept ID:
C4021631
Anatomical Abnormality
Synonym: Abnormality of the tracheobronchial system
 
HPO: HP:0005607

Conditions with this feature

Smith-Magenis syndrome
MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Diagnosis

Baqir M, Roden AC, Moua T
Semin Respir Crit Care Med 2020 Apr;41(2):299-310. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708059. PMID: 32279300
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Semin Pediatr Surg 2016 Jun;25(3):144-9. Epub 2016 Feb 19 doi: 10.1053/j.sempedsurg.2016.02.007. PMID: 27301600
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Therapy

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Prognosis

Baqir M, Roden AC, Moua T
Semin Respir Crit Care Med 2020 Apr;41(2):299-310. Epub 2020 Apr 12 doi: 10.1055/s-0040-1708059. PMID: 32279300
Czeyda-Pommersheim F, Hwang M, Chen SS, Strollo D, Fuhrman C, Bhalla S
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Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Deutsch ES
Respir Care 2010 Aug;55(8):1082-90. PMID: 20667156
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Clinical prediction guides

Hong PY, Wang L, Du YP, Wang M, Chen YY, Huang MH, Zhang XB
Sci Rep 2024 Apr 25;14(1):9493. doi: 10.1038/s41598-024-60307-z. PMID: 38664527Free PMC Article
He R, Hu C, Niu R
Respiration 2019;98(2):157-164. Epub 2019 May 8 doi: 10.1159/000496979. PMID: 31067555
Hewitt RJ, Butler CR, Maughan EF, Elliott MJ
Semin Pediatr Surg 2016 Jun;25(3):144-9. Epub 2016 Feb 19 doi: 10.1053/j.sempedsurg.2016.02.007. PMID: 27301600
Mathew SD, Battafarano DF, Morris MJ
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Recent systematic reviews

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
Tomography 2022 Jul 27;8(4):1947-1958. doi: 10.3390/tomography8040163. PMID: 36006061Free PMC Article
Wong LM, Cheruiyot I, de Oliveira MHS, Keet K, Tomaszewski KA, Walocha JA, Tubbs S, Henry BM
Ann Thorac Surg 2021 Jul;112(1):315-325. Epub 2020 Nov 4 doi: 10.1016/j.athoracsur.2020.08.060. PMID: 33159867
Adil EA, Kawai K, Dombrowski N, Irace AL, Cunningham MJ
Laryngoscope 2017 Jan;127(1):6-13. Epub 2016 Jun 16 doi: 10.1002/lary.26070. PMID: 27312809

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