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Abnormal incisura morphology

MedGen UID:
1617534
Concept ID:
C4531263
Anatomical Abnormality
HPO: HP:0031228

Definition

An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. [from HPO]

Conditions with this feature

Cornelia de Lange syndrome 1
MedGen UID:
1645760
Concept ID:
C4551851
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.

Professional guidelines

PubMed

Lucas CP, Zabramski JM, Spetzler RF, Jacobowitz R
Neurosurgery 1997 Jun;40(6):1119-30; discussion 1130-2. doi: 10.1097/00006123-199706000-00002. PMID: 9179884

Recent clinical studies

Etiology

Cui C, Hoon SY, Zhang R, Zhang Q, Xu Z, Xu F, Li D, Li Y
Aesthetic Plast Surg 2017 Oct;41(5):1106-1114. Epub 2017 Jun 22 doi: 10.1007/s00266-017-0907-y. PMID: 28643009
Lepojärvi S, Pakarinen H, Savola O, Haapea M, Sequeiros RB, Niinimäki J
J Orthop Trauma 2014 Apr;28(4):205-9. doi: 10.1097/BOT.0b013e3182a59b3c. PMID: 23899768
Chiou AC, Abularrage CJ, Olson PN, Hood L, Engeler CE, Griffiths HJ, Shumway SJ
Ann Thorac Surg 1996 Oct;62(4):1141-5. doi: 10.1016/0003-4975(96)00491-2. PMID: 8823103
King WA, Martin NA
Neurosurg Clin N Am 1992 Jul;3(3):577-90. PMID: 1633481
el Gammal T, Mark EK, Brooks BS
AJR Am J Roentgenol 1988 Jan;150(1):163-70. doi: 10.2214/ajr.150.1.163. PMID: 3257116

Diagnosis

Conner TM, Waziri A, Kleinschmidt-Demasters BK
Am J Surg Pathol 2012 Apr;36(4):526-33. doi: 10.1097/PAS.0b013e31823def98. PMID: 22261708
Eriksson NK, Färkkilä MA, Voutilainen ME, Arkkila PE
Endoscopy 2005 Jun;37(6):532-6. doi: 10.1055/s-2005-861311. PMID: 15933925
Verri A, Uggetti C, Vallero E, Ceroni M, Federico A
J Intellect Disabil Res 2000 Feb;44 ( Pt 1):86-90. doi: 10.1046/j.1365-2788.2000.00242.x. PMID: 10711654
King WA, Martin NA
Neurosurg Clin N Am 1992 Jul;3(3):577-90. PMID: 1633481
el Gammal T, Mark EK, Brooks BS
AJR Am J Roentgenol 1988 Jan;150(1):163-70. doi: 10.2214/ajr.150.1.163. PMID: 3257116

Therapy

Kikuchi H, Miyamoto S, Nagata I, Taki W, Nakahara I
Surg Neurol 1997 Mar;47(3):251-6; discussion 256-7. doi: 10.1016/s0090-3019(96)00474-0. PMID: 9068696

Prognosis

Cui C, Hoon SY, Zhang R, Zhang Q, Xu Z, Xu F, Li D, Li Y
Aesthetic Plast Surg 2017 Oct;41(5):1106-1114. Epub 2017 Jun 22 doi: 10.1007/s00266-017-0907-y. PMID: 28643009
Choudhri O, Lawton MT
Neurosurg Focus 2016 Jan;40 Video Suppl 1:2016.1.FocusVid.15414. doi: 10.3171/2016.1.FocusVid.15414. PMID: 26722691
Griessenauer CJ, Loukas M, Scott JA, Tubbs RS, Cohen-Gadol AA
Br J Neurosurg 2013 Dec;27(6):815-8. Epub 2013 May 25 doi: 10.3109/02688697.2013.798856. PMID: 23705581
Awad IA, Little JR, Akarawi WP, Ahl J
J Neurosurg 1990 Jun;72(6):839-50. doi: 10.3171/jns.1990.72.6.0839. PMID: 2140125
Nguyen JP, Djindjian M, Brugières P, Badiane S, Melon E, Poirier J
J Neuroradiol 1989;16(3):181-96. PMID: 2635214

Clinical prediction guides

Cui C, Hoon SY, Zhang R, Zhang Q, Xu Z, Xu F, Li D, Li Y
Aesthetic Plast Surg 2017 Oct;41(5):1106-1114. Epub 2017 Jun 22 doi: 10.1007/s00266-017-0907-y. PMID: 28643009
Lepojärvi S, Pakarinen H, Savola O, Haapea M, Sequeiros RB, Niinimäki J
J Orthop Trauma 2014 Apr;28(4):205-9. doi: 10.1097/BOT.0b013e3182a59b3c. PMID: 23899768
Luquetti DV, Saltzman BS, Sie KC, Birgfeld CB, Leroux BG, Evans KN, Smartt JM Jr, Tieu DD, Dudley DJ, Heike CL
Am J Med Genet A 2013 Jun;161A(6):1264-72. Epub 2013 Apr 24 doi: 10.1002/ajmg.a.35963. PMID: 23616389Free PMC Article
Langner M, Machado RS, Patrício FR, Kawakami E
Arq Gastroenterol 2009 Oct-Dec;46(4):328-32. doi: 10.1590/s0004-28032009000400015. PMID: 20232015
el Gammal T, Mark EK, Brooks BS
AJR Am J Roentgenol 1988 Jan;150(1):163-70. doi: 10.2214/ajr.150.1.163. PMID: 3257116

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