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[Cleidocranial dysplasia: a case report]

M Kanda1, S Kabe, T Kanki

  • 1Department of Neurosurgery, Kanagawa Prefectural Hospital.

No Shinkei Geka. Neurological Surgery
|January 16, 1998
PubMed
Summary
This summary is machine-generated.

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Cleidocranial dysplasia is a rare skeletal disorder affecting skull and clavicle development, characterized by delayed ossification and patent sutures. This condition presents with distinctive facial features and skeletal abnormalities, impacting neurosurgical and orthopedic care.

Area of Science:

  • Genetics and Skeletal Biology
  • Pediatric Endocrinology
  • Medical Genetics

Background:

  • Cleidocranial dysplasia (CCD) is an uncommon generalized skeletal disorder affecting membranous and endochondral bone formation.
  • It is inherited as an autosomal dominant trait with high penetrance, though expression varies widely.
  • Cytogenetic abnormalities, particularly involving chromosome 6p21, have been associated with the CCD phenotype.

Observation:

  • A 3-month-old infant presented with a patent sagittal suture, weight loss, delayed closure of sagittal and metopic sutures, hypertelorism, saddle nose, and absent clavicle edges.
  • Radiological findings included enlarged cranial sutures and fontanelles, a bell-shaped thoracic cage, and partial aplasia of the clavicles.
  • Clinical features indicate a generalized defect in bone formation, with delayed ossification of the skull and hypoplastic clavicles.

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Findings:

  • The diagnosis of cleidocranial dysplasia was confirmed based on clinical and radiological evidence.
  • Key characteristics include delayed skull ossification, patent fontanelles and sutures persisting into adulthood, and aplastic or hypoplastic clavicles.
  • Facial deformities such as midface retrusion and mandibular prognathism are common, alongside delayed dental development.

Implications:

  • While skull deformities and delayed suture closure pose challenges for neurosurgeons, they do not typically lead to abnormal calvarial growth patterns.
  • Management is supportive, addressing neurosurgical, orthopedic, pediatric, and dental concerns.
  • Despite potential psychosocial issues, patients with cleidocranial dysplasia generally have a good prognosis and normal life expectancy.