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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

Kamran A, Baird CW, Jennings RW
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Recent clinical studies

Etiology

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Diagnosis

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Therapy

Chen L, Zhu L, Wang H, Lu Z, Xu Z, Du X, Wang S
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Prognosis

Restrepo CS, Gonzalez TV, Baxi AJ, Saboo SS
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Baqir M, Roden AC, Moua T
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Clinical prediction guides

Hong PY, Wang L, Du YP, Wang M, Chen YY, Huang MH, Zhang XB
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J Thorac Cardiovasc Surg 2022 Jun;163(6):2218-2228. Epub 2021 Nov 4 doi: 10.1016/j.jtcvs.2021.10.047. PMID: 34872757
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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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