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Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases.
J Neurosurg. 2006 Apr; 104(4 Suppl):290-2.JN

Abstract

Cleidocranial dysplasia is an autosomal-dominant disorder characterized by late closure or nonclosure of the anterior fontanelle, late ossification of cranial sutures, defective clavicle, and delayed eruption of permanent teeth. In this article, two cases of cleidocranial dysplasia involving a mother and her daughter are reported, and a case management policy is suggested. The 1-year-old daughter was macrocephalic and brachycephalic, and had midface hypoplasia and hypertelorism. Plain radiographs revealed aplasia of the clavicles. Three-dimensional computerized tomography scanning demonstrated a large anterior fontanelle, a patent posterior fontanelle, and bone defects at the pterion and asterion, together with nonfused metopic and sagittal sutures. The mother was 22 years of age. She had an open anterior fontanelle, aplastic clavicles, and unerupted permanent teeth. Although it is a rare disorder, cleidocranial dysplasia should be recognized by neurosurgeons. A protective helmet can be provided in early childhood, and craniofacial remodeling can be undertaken at a later age, when the final size and shape of the skull become apparent.

Authors+Show Affiliations

Second Clinic of Pediatrics, Dr Lutfi Kirdar Kartal Research and Training Hospital, Istanbul, Turkey.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16619644

Citation

Tokuc, Gulnur, et al. "Cleidocranial Dysplasia in a Mother and Her Daughter Within the Scope of Neurosurgery. Report of Two Cases." Journal of Neurosurgery, vol. 104, no. 4 Suppl, 2006, pp. 290-2.
Tokuc G, Boran P, Boran BO. Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases. J Neurosurg. 2006;104(4 Suppl):290-2.
Tokuc, G., Boran, P., & Boran, B. O. (2006). Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases. Journal of Neurosurgery, 104(4 Suppl), 290-2.
Tokuc G, Boran P, Boran BO. Cleidocranial Dysplasia in a Mother and Her Daughter Within the Scope of Neurosurgery. Report of Two Cases. J Neurosurg. 2006;104(4 Suppl):290-2. PubMed PMID: 16619644.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases. AU - Tokuc,Gulnur, AU - Boran,Perran, AU - Boran,Burak O, PY - 2006/4/20/pubmed PY - 2006/5/4/medline PY - 2006/4/20/entrez SP - 290 EP - 2 JF - Journal of neurosurgery JO - J Neurosurg VL - 104 IS - 4 Suppl N2 - Cleidocranial dysplasia is an autosomal-dominant disorder characterized by late closure or nonclosure of the anterior fontanelle, late ossification of cranial sutures, defective clavicle, and delayed eruption of permanent teeth. In this article, two cases of cleidocranial dysplasia involving a mother and her daughter are reported, and a case management policy is suggested. The 1-year-old daughter was macrocephalic and brachycephalic, and had midface hypoplasia and hypertelorism. Plain radiographs revealed aplasia of the clavicles. Three-dimensional computerized tomography scanning demonstrated a large anterior fontanelle, a patent posterior fontanelle, and bone defects at the pterion and asterion, together with nonfused metopic and sagittal sutures. The mother was 22 years of age. She had an open anterior fontanelle, aplastic clavicles, and unerupted permanent teeth. Although it is a rare disorder, cleidocranial dysplasia should be recognized by neurosurgeons. A protective helmet can be provided in early childhood, and craniofacial remodeling can be undertaken at a later age, when the final size and shape of the skull become apparent. SN - 0022-3085 UR - https://www.unboundmedicine.com/medline/citation/16619644/Cleidocranial_dysplasia_in_a_mother_and_her_daughter_within_the_scope_of_neurosurgery__Report_of_two_cases_ DB - PRIME DP - Unbound Medicine ER -