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Premature closure of fontanelles

MedGen UID:
548468
•Concept ID:
C0277827
•
Finding
Synonyms: Early closure of fontanels; Obliterated fontanelles; Premature closure of fontanels
SNOMED CT: Early fontanel closure (1667003)
 
HPO: HP:0005458

Definition

Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. [from HPO]

Conditions with this feature

Cerebrooculofacioskeletal syndrome 4
MedGen UID:
342798
•Concept ID:
C1853100
•
Disease or Syndrome
Cerebrooculofacioskeletal syndrome-4 (COFS4) is a severe autosomal recessive disorder characterized by growth retardation, dysmorphic facial features, arthrogryposis, and neurologic abnormalities. Cellular studies show a defect in both transcription-coupled and global genome nucleotide excision repair (TC-NER and GG-NER) (summary by Jaspers et al., 2007 and Kashiyama et al., 2013). For a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see 214150.
See: Condition Record
Neuronal ceroid lipofuscinosis 10
MedGen UID:
350481
•Concept ID:
C1864669
•
Disease or Syndrome
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730).
See: Condition Record
Cerebrooculofacioskeletal syndrome 4
Neuronal ceroid lipofuscinosis 10

Professional guidelines

PubMed

Clinical and ultrasonographic criteria for using ventriculoperitoneal shunts in newborns with myelomeningocele.
Melo JR, Pacheco P, Melo EN, Vasconcellos Â, Passos RK
Arq Neuropsiquiatr 2015 Sep;73(9):759-63. doi: 10.1590/0004-282X20150110. PMID: 26352494
Nuclear magnetic resonance imaging in the diagnosis and follow-up of neonatal cerebral injury.
Dubowitz LM, Bydder GM
Clin Perinatol 1985 Feb;12(1):243-60. PMID: 3978988

Recent clinical studies

Etiology

The neurodevelopmental profile of healthy children with premature anterior fontanel closure.
Direk M, Makharoblıdze K, Polat BG, Özdemir AA, Okuyaz Ç
Turk J Med Sci 2022 Aug;52(4):934-941. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5393. PMID: 36326403Free PMC Article
Neurodevelopmental risk evaluation of premature closure of the anterior fontanelle.
Sarigecili E, Makharoblidze K, Çobanogullari MD, Yildirim DD, Komur M, Okuyaz C
Childs Nerv Syst 2021 Feb;37(2):561-566. Epub 2020 Jul 31 doi: 10.1007/s00381-020-04846-6. PMID: 32737565
Clinical and ultrasonographic criteria for using ventriculoperitoneal shunts in newborns with myelomeningocele.
Melo JR, Pacheco P, Melo EN, Vasconcellos Â, Passos RK
Arq Neuropsiquiatr 2015 Sep;73(9):759-63. doi: 10.1590/0004-282X20150110. PMID: 26352494
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.
Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M
Am J Med Genet A 2007 Dec 15;143A(24):3243-51. doi: 10.1002/ajmg.a.32073. PMID: 18000970

Diagnosis

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J, Xie H, Jiang Y
BMC Med Genet 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4. PMID: 29606097Free PMC Article
Clinical and ultrasonographic criteria for using ventriculoperitoneal shunts in newborns with myelomeningocele.
Melo JR, Pacheco P, Melo EN, Vasconcellos Â, Passos RK
Arq Neuropsiquiatr 2015 Sep;73(9):759-63. doi: 10.1590/0004-282X20150110. PMID: 26352494
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
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C
Orphanet J Rare Dis 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. PMID: 19232094Free PMC Article
The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.
Sanchez-Lara PA, Graham JM Jr, Hing AV, Lee J, Cunningham M
Am J Med Genet A 2007 Dec 15;143A(24):3243-51. doi: 10.1002/ajmg.a.32073. PMID: 18000970

Therapy

Management of hypoparathyroidism during pregnancy--report of twelve cases.
Callies F, Arlt W, Scholz HJ, Reincke M, Allolio B
Eur J Endocrinol 1998 Sep;139(3):284-9. doi: 10.1530/eje.0.1390284. PMID: 9758437

Prognosis

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J, Xie H, Jiang Y
BMC Med Genet 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4. PMID: 29606097Free PMC Article
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D
Am J Hum Genet 2005 Aug;77(2):305-12. Epub 2005 Jun 10 doi: 10.1086/432261. PMID: 15952089Free PMC Article
Management of hypoparathyroidism during pregnancy--report of twelve cases.
Callies F, Arlt W, Scholz HJ, Reincke M, Allolio B
Eur J Endocrinol 1998 Sep;139(3):284-9. doi: 10.1530/eje.0.1390284. PMID: 9758437
The significance of ventriculomegaly in the newborn with myelodysplasia.
Bell WO, Sumner TE, Volberg FM
Childs Nerv Syst 1987;3(4):239-41. doi: 10.1007/BF00274056. PMID: 3690564
Pregnancy outcome in renal transplant recipients: experience at the Medical College of Georgia and review of the literature.
Hadi HA, Stafford CR, Williamson JR, Fadel HE, Devoe LD
South Med J 1986 Aug;79(8):959-64. doi: 10.1097/00007611-198608000-00011. PMID: 3526573

Clinical prediction guides

The neurodevelopmental profile of healthy children with premature anterior fontanel closure.
Direk M, Makharoblıdze K, Polat BG, Özdemir AA, Okuyaz Ç
Turk J Med Sci 2022 Aug;52(4):934-941. Epub 2022 Aug 10 doi: 10.55730/1300-0144.5393. PMID: 36326403Free PMC Article
Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y
Eur J Med Genet 2016 Jun;59(6-7):347-53. Epub 2016 May 11 doi: 10.1016/j.ejmg.2016.05.004. PMID: 27180140
New pathogenesis and the classification in scaphocephaly.
Sakamoto Y, Nakajima H, Tamada I, Miwa T, Kishi K, Yoshida K
J Plast Surg Hand Surg 2014 Feb;48(1):24-7. Epub 2013 Apr 30 doi: 10.3109/2000656X.2013.793602. PMID: 23627629
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D
Am J Hum Genet 2005 Aug;77(2):305-12. Epub 2005 Jun 10 doi: 10.1086/432261. PMID: 15952089Free PMC Article
Anterior fontanel: size and closure in term and preterm infants.
Duc G, Largo RH
Pediatrics 1986 Nov;78(5):904-8. PMID: 3763303

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