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Anterior plagiocephaly

MedGen UID:
868997
Concept ID:
C4023413
Finding
Synonyms: Anterior flat head syndrome; Coronal synostosis; Deformational anterior plagiocephaly; Deformational frontal plagiocephaly; Frontal plagiocephaly; Positional anterior plagiocephaly; Positional frontal plagiocephaly; Unicoronal craniosynostosis
 
HPO: HP:0011326

Definition

Asymmetry of the anterior part of the skull. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnterior plagiocephaly

Conditions with this feature

Frontonasal dysplasia with alopecia and genital anomaly
MedGen UID:
462053
Concept ID:
C3150703
Disease or Syndrome
Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).
Hyperphosphatasia with intellectual disability syndrome 2
MedGen UID:
766551
Concept ID:
C3553637
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2) is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of hyperphosphatasia with impaired intellectual development syndrome, see HPMRS1 (239300). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Hypogonadotropic hypogonadism 26 with or without anosmia
MedGen UID:
1811919
Concept ID:
C5676903
Disease or Syndrome
HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis (Davis et al., 2020). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.

Professional guidelines

PubMed

Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284
Simon A, Bocquet E, Pellerin P, Vinchon M, Dhellemmes P, Martinot V, Wolber A, Calibre C, Charlier P, Guerreschi P
J Craniomaxillofac Surg 2018 Jun;46(6):958-966. Epub 2018 Mar 28 doi: 10.1016/j.jcms.2018.03.014. PMID: 29661661

Recent clinical studies

Etiology

Hammeni P, Khanna RK, Kulker D, Travers N, Arsene S, Laure B
J Fr Ophtalmol 2022 May;45(5):537-542. Epub 2022 Apr 14 doi: 10.1016/j.jfo.2021.04.012. PMID: 35431098
Kronig SAJ, Kronig ODM, Vrooman HA, Veenland JF, Van Adrichem LNA
Cleft Palate Craniofac J 2021 Jul;58(7):832-837. Epub 2020 Oct 20 doi: 10.1177/1055665620965099. PMID: 33078622Free PMC Article
Kronig ODM, Kronig SAJ, Vrooman HA, Veenland JF, Jippes M, Boen T, Van Adrichem LNA
Eur J Pediatr 2020 Oct;179(10):1569-1577. Epub 2020 Apr 17 doi: 10.1007/s00431-020-03643-2. PMID: 32303825Free PMC Article
Joly A, Paré A, Sallot A, Arsène S, Listrat A, Travers N, Goga D, Laure B
J Craniofac Surg 2016 May;27(3):627-30. doi: 10.1097/SCS.0000000000002585. PMID: 27092924
Matushita H, Alonso N, Cardeal DD, de Andrade F
Childs Nerv Syst 2012 Sep;28(9):1423-7. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1765-1. PMID: 22872258

Diagnosis

Mizutani K, Miwa T, Sakamoto Y, Toda M
J Craniofac Surg 2022 Sep 1;33(6):1843-1846. Epub 2022 Mar 9 doi: 10.1097/SCS.0000000000008620. PMID: 35261366
Dalmas F, Pech-Gourg G, Gallucci A, Denis D, Scavarda D
Neurochirurgie 2020 Apr;66(2):91-96. Epub 2019 Dec 19 doi: 10.1016/j.neuchi.2019.10.010. PMID: 31866515
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284
Joly A, Paré A, Sallot A, Arsène S, Listrat A, Travers N, Goga D, Laure B
J Craniofac Surg 2016 May;27(3):627-30. doi: 10.1097/SCS.0000000000002585. PMID: 27092924
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257

Therapy

Saponaro G, Todaro M, Barbera G, Scivoletto G, Foresta E, Gasparini G, Moro A
Ann Plast Surg 2023 Jun 1;90(6):564-567. Epub 2023 Mar 8 doi: 10.1097/SAP.0000000000003527. PMID: 36975101
Kronig SAJ, Kronig ODM, Vrooman HA, Van Adrichem LNA
J Craniofac Surg 2023 Jan-Feb 01;34(1):312-317. Epub 2022 Aug 11 doi: 10.1097/SCS.0000000000008912. PMID: 35949016
Martini M, Röhrig A, Reich RH, Messing-Jünger M
J Craniomaxillofac Surg 2017 Mar;45(3):395-400. Epub 2016 Dec 21 doi: 10.1016/j.jcms.2016.12.018. PMID: 28108236
Silveira Camargos I, Metzler P, Persing J, Alcon A, Steinbacher DM
J Plast Reconstr Aesthet Surg 2015 May;68(5):615-21. Epub 2015 Feb 21 doi: 10.1016/j.bjps.2015.02.015. PMID: 25863706
Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545

Prognosis

Kalantar-Hormozi H, Abbaszadeh-Kasbi A, Sharifi G, Davai NR, Kalantar-Hormozi A
J Craniofac Surg 2019 Sep;30(6):e514-e517. doi: 10.1097/SCS.0000000000005419. PMID: 30921071
Joly A, Paré A, Sallot A, Arsène S, Listrat A, Travers N, Goga D, Laure B
J Craniofac Surg 2016 May;27(3):627-30. doi: 10.1097/SCS.0000000000002585. PMID: 27092924
Matushita H, Alonso N, Cardeal DD, de Andrade F
Childs Nerv Syst 2012 Sep;28(9):1423-7. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1765-1. PMID: 22872258
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257
Silav G, Avci G, Akan M, Taylan G, Elmaci I, Akoz T
Turk Neurosurg 2011;21(3):304-14. doi: 10.5137/1019-5149.JTN.4095-11.1. PMID: 21845565

Clinical prediction guides

Saponaro G, Todaro M, Barbera G, Scivoletto G, Foresta E, Gasparini G, Moro A
Ann Plast Surg 2023 Jun 1;90(6):564-567. Epub 2023 Mar 8 doi: 10.1097/SAP.0000000000003527. PMID: 36975101
Kronig SAJ, Kronig ODM, Vrooman HA, Veenland JF, Van Adrichem LNA
Cleft Palate Craniofac J 2021 Jul;58(7):832-837. Epub 2020 Oct 20 doi: 10.1177/1055665620965099. PMID: 33078622Free PMC Article
Kronig ODM, Kronig SAJ, Vrooman HA, Veenland JF, Jippes M, Boen T, Van Adrichem LNA
Eur J Pediatr 2020 Oct;179(10):1569-1577. Epub 2020 Apr 17 doi: 10.1007/s00431-020-03643-2. PMID: 32303825Free PMC Article
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257
Lattanzi W, Bukvic N, Barba M, Tamburrini G, Bernardini C, Michetti F, Di Rocco C
Childs Nerv Syst 2012 Sep;28(9):1301-10. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1781-1. PMID: 22872241

Recent systematic reviews

Elbanoby T
Pediatr Neurosurg 2018;53(3):193-199. Epub 2018 Feb 7 doi: 10.1159/000486202. PMID: 29408824

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