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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

Gavrilă MT, Cristea V, Smarandache CG, Ștefan C
Medicina (Kaunas) 2024 Dec 9;60(12) doi: 10.3390/medicina60122026. PMID: 39768905Free PMC Article
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
Solla F, Bertoncelli CM, Lemoine J, Rampal V
J Pediatr Orthop 2020 May/Jun;40(5):259. doi: 10.1097/BPO.0000000000001499. PMID: 31876700

Recent clinical studies

Etiology

Potulska-Chromik A, Lipowska M, Gawel M, Ryniewicz B, Maj E, Kostera-Pruszczyk A
J Child Neurol 2014 Feb;29(2):227-31. Epub 2013 Oct 1 doi: 10.1177/0883073813504458. PMID: 24084629
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
Banskota AK, Bijukachhe B, Rajbhandary T, Pradhan I, Singh A
Kathmandu Univ Med J (KUMJ) 2005 Jan-Mar;3(1):30-4. PMID: 16401942
Castelló JR, Garro L, Campo M
Ann Chir Main Memb Super 1996;15(1):11-7. doi: 10.1016/s0753-9053(96)80019-6. PMID: 8829380
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Diagnosis

Meena L, Gupta R
N Engl J Med 2021 Oct 14;385(16):1510. Epub 2021 Oct 9 doi: 10.1056/NEJMicm2103503. PMID: 34623787
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
Bauer AS, Bednar MS, James MA
J Hand Surg Am 2013 Nov;38(11):2293-302; quiz 2302. Epub 2013 May 24 doi: 10.1016/j.jhsa.2013.03.024. PMID: 23707597
Bates SJ, Hansen SL, Jones NF
Plast Reconstr Surg 2009 Jul;124(1 Suppl):128e-143e. doi: 10.1097/PRS.0b013e3181a80777. PMID: 19568146
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

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
Gupta V, Pandita A, Panghal A, Hassan N
BMJ Case Rep 2018 May 12;2018 doi: 10.1136/bcr-2017-223624. PMID: 29754137Free PMC Article
Weissmann-Brenner A, Lerner A, Peleg D
Eur J Contracept Reprod Health Care 2007 Sep;12(3):294-7. doi: 10.1080/13625180701393611. PMID: 17763269
Braverman IM
Dermatol Clin 1986 Jul;4(3):391-405. PMID: 3521985
Desaia A, Intenzo C
J Nucl Med 1984 Jun;25(6):697-9. PMID: 6233409

Prognosis

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
Buck-Gramcko D
Chir Main 2002 Mar;21(2):70-101. doi: 10.1016/s1297-3203(02)00103-8. PMID: 11980346
Castelló JR, Garro L, Campo M
Ann Chir Main Memb Super 1996;15(1):11-7. doi: 10.1016/s0753-9053(96)80019-6. PMID: 8829380
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

Clinical prediction guides

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
Schmidt CC, Neufeld SK
Hand Clin 1998 Feb;14(1):65-76. PMID: 9526157
Castelló JR, Garro L, Campo M
Ann Chir Main Memb Super 1996;15(1):11-7. doi: 10.1016/s0753-9053(96)80019-6. PMID: 8829380
Devansh
Plast Reconstr Surg 1996 Feb;97(2):420-6. doi: 10.1097/00006534-199602000-00022. PMID: 8559826
Miller JK, Wenner SM, Kruger LM
J Hand Surg Am 1986 Nov;11(6):822-9. doi: 10.1016/s0363-5023(86)80230-1. PMID: 3794237

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
Yammine K, Erić M
Hand Surg Rehabil 2018 Apr;37(2):77-85. Epub 2018 Feb 12 doi: 10.1016/j.hansur.2017.11.007. PMID: 29449159
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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