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Abnormal forearm morphology

MedGen UID:
871189
Concept ID:
C4025666
Anatomical Abnormality
Synonym: Abnormality of the forearm
 
HPO: HP:0002973

Definition

An abnormality of the lower arm. [from HPO]

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

Wang Z, Yan H, Ding Y, Gong Y, Ma Y, Yao W, Li K
J Pediatr Surg 2023 Jul;58(7):1337-1341. Epub 2023 Feb 15 doi: 10.1016/j.jpedsurg.2023.01.063. PMID: 36898877
Datta NK, Das KP, Aish PK, Datta M, Banik SK, Sen SK, Chowdhury RM
Mymensingh Med J 2023 Jan;32(1):135-143. PMID: 36594313
Bergeron SG, Desy NM, Bernstein M, Harvey EJ
J Am Acad Orthop Surg 2012 Jul;20(7):450-8. doi: 10.5435/JAAOS-20-07-450. PMID: 22751164

Recent clinical studies

Etiology

Sharma S, Sharma RS, Adole S, Dixit SG, Ghatak S
Ann Afr Med 2023 Oct-Dec;22(4):557-559. doi: 10.4103/aam.aam_35_22. PMID: 38358162Free PMC Article
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Bergeron SG, Desy NM, Bernstein M, Harvey EJ
J Am Acad Orthop Surg 2012 Jul;20(7):450-8. doi: 10.5435/JAAOS-20-07-450. PMID: 22751164
Saoud B, Allali F, Hassouni NH
Joint Bone Spine 2006 May;73(3):318-20. Epub 2005 Sep 16 doi: 10.1016/j.jbspin.2005.05.004. PMID: 16253536
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Diagnosis

Datta NK, Das KP, Aish PK, Datta M, Banik SK, Sen SK, Chowdhury RM
Mymensingh Med J 2023 Jan;32(1):135-143. PMID: 36594313
Meena L, Gupta R
N Engl J Med 2021 Oct 14;385(16):1510. Epub 2021 Oct 9 doi: 10.1056/NEJMicm2103503. PMID: 34623787
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Andring N, Kennedy SA, Iannuzzi NP
J Hand Surg Am 2018 May;43(5):455-463. Epub 2018 Mar 27 doi: 10.1016/j.jhsa.2018.02.028. PMID: 29602650
Kumar A, Kanojia RK, Saili A
Int J Dermatol 2014 Jul;53(7):789-97. Epub 2014 Apr 16 doi: 10.1111/ijd.12376. PMID: 24738724

Therapy

Meena L, Gupta R
N Engl J Med 2021 Oct 14;385(16):1510. Epub 2021 Oct 9 doi: 10.1056/NEJMicm2103503. PMID: 34623787
Falcone M, Blecher G, Anfosso M, Christopher AN, Ralph DJ
Eur Urol 2021 May;79(5):684-691. Epub 2020 Aug 14 doi: 10.1016/j.eururo.2020.07.025. PMID: 32800729
Cs Nagy G, Verwiebe R, Wunsch M
Vasa 2018 Aug;47(5):403-407. Epub 2018 Jul 19 doi: 10.1024/0301-1526/a000719. PMID: 30022718
Waheed O, Sharma A, Singh M, Kaluski E
J Invasive Cardiol 2017 May;29(5):169-174. PMID: 28441639
DerDerian T, Hingorani A, Boniviscage P, Carollo A, Ascher E
Ann Vasc Surg 2014 Jul;28(5):1275-9. Epub 2014 Feb 8 doi: 10.1016/j.avsg.2013.12.030. PMID: 24517991

Prognosis

Datta NK, Das KP, Aish PK, Datta M, Banik SK, Sen SK, Chowdhury RM
Mymensingh Med J 2023 Jan;32(1):135-143. PMID: 36594313
Andring N, Kennedy SA, Iannuzzi NP
J Hand Surg Am 2018 May;43(5):455-463. Epub 2018 Mar 27 doi: 10.1016/j.jhsa.2018.02.028. PMID: 29602650
Saoud B, Allali F, Hassouni NH
Joint Bone Spine 2006 May;73(3):318-20. Epub 2005 Sep 16 doi: 10.1016/j.jbspin.2005.05.004. PMID: 16253536
Rodriguez-Niedenführ M, Vazquez T, Ferreira B, Parkin I, Nearn L, Sañudo JR
Clin Anat 2002 Mar;15(2):135-8. doi: 10.1002/ca.1108. PMID: 11877792
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Clinical prediction guides

Sharma S, Sharma RS, Adole S, Dixit SG, Ghatak S
Ann Afr Med 2023 Oct-Dec;22(4):557-559. doi: 10.4103/aam.aam_35_22. PMID: 38358162Free PMC Article
Rutkowski PT, Samora JB
J Am Acad Orthop Surg 2021 Jul 1;29(13):563-570. doi: 10.5435/JAAOS-D-20-01133. PMID: 33826558
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Rodriguez-Niedenführ M, Vazquez T, Ferreira B, Parkin I, Nearn L, Sañudo JR
Clin Anat 2002 Mar;15(2):135-8. doi: 10.1002/ca.1108. PMID: 11877792
Ogden JA, Watson HK, Bohne W
J Bone Joint Surg Am 1976 Jun;58(4):467-75. PMID: 818089

Recent systematic reviews

Barik S, Farr S, Gallone G, Zarantonello P, Trisolino G, Di Gennaro GL
J Pediatr Orthop B 2021 Nov 1;30(6):593-600. doi: 10.1097/BPB.0000000000000841. PMID: 33315801Free PMC Article
Longhurst G, Stone D, Mahony N
Surg Radiol Anat 2020 Mar;42(3):289-295. Epub 2019 Nov 12 doi: 10.1007/s00276-019-02363-z. PMID: 31720753Free PMC Article
Murphy GRF, Logan MPO, Smith G, Sivakumar B, Smith P
J Bone Joint Surg Am 2017 Dec 20;99(24):2120-2126. doi: 10.2106/JBJS.17.00164. PMID: 29257019Free PMC Article
Oliveira DE, da Cruz ML, Liguori R, Garrone G, Leslie B, Ottoni SL, Souza GR, Ortiz V, de Castro R, Macedo A Jr
J Pediatr Urol 2016 Feb;12(1):19-24. Epub 2015 Nov 18 doi: 10.1016/j.jpurol.2015.10.003. PMID: 26778186
Patel A, Li L, Anand A
Injury 2014 Aug;45(8):1135-43. Epub 2014 May 2 doi: 10.1016/j.injury.2014.04.020. PMID: 24845408

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