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Extra fontanelles

MedGen UID:
868528
•Concept ID:
C4022927
•
Anatomical Abnormality
HPO: HP:0012367

Definition

Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull. [from HPO]

Recent clinical studies

Etiology

Experience on Transfontanelle Neurosonography in Kano, Nigeria: a preliminary report.
Tabari AM, Isyaku K, Mamman M, Ma'aji S, Idris SK
Niger Postgrad Med J 2008 Dec;15(4):255-8. PMID: 19169344
Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding?
Reish O, Wolach B, Amiel A, Kedar I, Dolfin T, Fejgin M
Am J Med Genet 1998 Apr 28;77(1):72-5. PMID: 9557898
Melanotic neuroectodermal neurocranial tumor of infancy of extra-intra-and subdural right temporal location: CT examination, surgical treatment, literature review.
Parízek J, Nĕmecek S, Cernoch Z, Heger L, Nozicka Z, Spacek J
Neuropediatrics 1986 Aug;17(3):115-23. PMID: 3020466
Sonographic appearance of extra-axial fluid collections in the infant: further observations.
Grant EG, Jacobs NM
J Clin Ultrasound 1984 Jul-Aug;12(6):339-42. doi: 10.1002/jcu.1870120605. PMID: 6438161

Diagnosis

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.
Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W
Taiwan J Obstet Gynecol 2016 Aug;55(4):591-5. doi: 10.1016/j.tjog.2016.06.014. PMID: 27590389
Sonographic and Doppler Sonographic Diagnosis of Posthemorrhagic Hydrocephalus.
Deeg KH
Ultraschall Med 2015 Aug;36(4):318-33; quiz 333-6. Epub 2015 Jan 21 doi: 10.1055/s-0034-1398855. PMID: 25607627
Pure 9p trisomy derived from a terminal balanced unreciprocal translocation.
Brambila-Tapia AJ, Neira VA, Vásquez-Velásquez AI, Jimenez-Arredondo RE, Chávez-González EL, Picos-Cárdenas VJ, Fletes-Rayas AL, Figuera LE
Genet Couns 2014;25(3):289-97. PMID: 25365851
Wormian bones: a review.
Bellary SS, Steinberg A, Mirzayan N, Shirak M, Tubbs RS, Cohen-Gadol AA, Loukas M
Clin Anat 2013 Nov;26(8):922-7. Epub 2013 Aug 20 doi: 10.1002/ca.22262. PMID: 23959948
Sonographic appearance of extra-axial fluid collections in the infant: further observations.
Grant EG, Jacobs NM
J Clin Ultrasound 1984 Jul-Aug;12(6):339-42. doi: 10.1002/jcu.1870120605. PMID: 6438161

Prognosis

Feeding and care of low-birthweight babies in two rural communities in south-western Nigeria.
Adejuyigbe EA, Odebiyi AI, Aina O, Bamiwuye S
Matern Child Nutr 2008 Jan;4(1):55-64. doi: 10.1111/j.1740-8709.2007.00101.x. PMID: 18171407Free PMC Article
Dilemma of trisomy 20 mosaicism detected prenatally: is it an innocent finding?
Reish O, Wolach B, Amiel A, Kedar I, Dolfin T, Fejgin M
Am J Med Genet 1998 Apr 28;77(1):72-5. PMID: 9557898

Clinical prediction guides

Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE
Am J Med Genet A 2007 Oct 1;143A(19):2321-9. doi: 10.1002/ajmg.a.31928. PMID: 17853486Free PMC Article
Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years.
Fan YS, Jung J, Hamilton B
Am J Med Genet 1999 Sep 10;86(2):118-23. doi: 10.1002/(sici)1096-8628(19990910)86:2<118::aid-ajmg6>3.0.co;2-s. PMID: 10449645
Sonographic appearance of extra-axial fluid collections in the infant: further observations.
Grant EG, Jacobs NM
J Clin Ultrasound 1984 Jul-Aug;12(6):339-42. doi: 10.1002/jcu.1870120605. PMID: 6438161

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