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Abnormal shape of the occiput

MedGen UID:
869041
Concept ID:
C4023459
Anatomical Abnormality
Synonyms: Abnormal shape of posterior cranium; Abnormal shape of posterior head; Abnormal shape of posterior skull; Abnormal shape of the back of the head; Abnormal shape of the back of the skull
 
HPO: HP:0011217

Definition

An abnormal shape of occiput. [from HPO]

Term Hierarchy

Conditions with this feature

Craniofacial dyssynostosis
MedGen UID:
347473
Concept ID:
C1857511
Disease or Syndrome
A rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull, and hydrocephalus.

Professional guidelines

PubMed

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Laughlin J, Luerssen TG, Dias MS; Committee on Practice and Ambulatory Medicine, Section on Neurological Surgery
Pediatrics 2011 Dec;128(6):1236-41. Epub 2011 Nov 28 doi: 10.1542/peds.2011-2220. PMID: 22123884
Ellenbogen RG, Gruss JS, Cunningham ML
Clin Neurosurg 2000;47:303-18. PMID: 11197708

Recent clinical studies

Etiology

Kronig SAJ, Kronig ODM, Vrooman HA, Van Adrichem LNA
Cleft Palate Craniofac J 2023 Oct;60(10):1273-1283. Epub 2022 May 11 doi: 10.1177/10556656221100679. PMID: 35538856Free PMC Article
Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Kronig ODM, Kronig SAJ, Van Adrichem LNA
Cleft Palate Craniofac J 2021 Oct;58(10):1274-1280. Epub 2020 Dec 30 doi: 10.1177/1055665620982777. PMID: 33380220Free PMC Article
Compton AA
Clin Obstet Gynecol 1987 Mar;30(1):69-76. doi: 10.1097/00003081-198703000-00010. PMID: 3555919

Diagnosis

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Laughlin J, Luerssen TG, Dias MS; Committee on Practice and Ambulatory Medicine, Section on Neurological Surgery
Pediatrics 2011 Dec;128(6):1236-41. Epub 2011 Nov 28 doi: 10.1542/peds.2011-2220. PMID: 22123884
Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, Drummond DS
J Bone Joint Surg Am 2004 Aug;86(8):1751-60. doi: 10.2106/00004623-200408000-00020. PMID: 15292424
Ellenbogen RG, Gruss JS, Cunningham ML
Clin Neurosurg 2000;47:303-18. PMID: 11197708
Compton AA
Clin Obstet Gynecol 1987 Mar;30(1):69-76. doi: 10.1097/00003081-198703000-00010. PMID: 3555919

Therapy

Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article

Prognosis

Pastor-Pons I, Hidalgo-García C, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Tricás-Moreno JM
Ital J Pediatr 2021 Feb 25;47(1):41. doi: 10.1186/s13052-021-00995-9. PMID: 33632268Free PMC Article
Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, Drummond DS
J Bone Joint Surg Am 2004 Aug;86(8):1751-60. doi: 10.2106/00004623-200408000-00020. PMID: 15292424
Sgouros S, Goldin JH, Hockley AD, Wake MJ
Childs Nerv Syst 1996 Nov;12(11):727-33. doi: 10.1007/BF00366158. PMID: 9118138
Cohen SR, de Chalain TM, Burstein FD, Hudgins R, Boydston W
Ann Plast Surg 1995 Dec;35(6):627-30; discussion 631-2. PMID: 8748346
Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM
Fetal Diagn Ther 1992;7(2):132-7. doi: 10.1159/000263660. PMID: 1503648

Clinical prediction guides

Kronig ODM, Kronig SAJ, Van Adrichem LNA
Childs Nerv Syst 2021 Apr;37(4):1175-1183. Epub 2020 Oct 18 doi: 10.1007/s00381-020-04932-9. PMID: 33070215Free PMC Article
Ou Yang O, Marucci DD, Gates RJ, Rahman M, Hunt J, Gianoutsos MP, Walsh WR
J Plast Reconstr Aesthet Surg 2017 May;70(5):673-685. Epub 2017 Jan 9 doi: 10.1016/j.bjps.2016.12.004. PMID: 28262513
Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, Drummond DS
J Bone Joint Surg Am 2004 Aug;86(8):1751-60. doi: 10.2106/00004623-200408000-00020. PMID: 15292424
Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM
Fetal Diagn Ther 1992;7(2):132-7. doi: 10.1159/000263660. PMID: 1503648
Lee ML, Sciorra LJ
Ann Genet 1981;24(1):51-3. PMID: 6971620

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