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Premature posterior fontanelle closure

MedGen UID:
326407
•Concept ID:
C1839126
•
Finding
HPO: HP:0005494

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPremature posterior fontanelle closure

Conditions with this feature

Trigonocephaly-short stature-developmental delay syndrome
MedGen UID:
374138
•Concept ID:
C1839125
•
Disease or Syndrome
Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out.
See: Condition Record
Trigonocephaly-short stature-developmental delay syndrome

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
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

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
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

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

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