Cleidocranial dysplasia

Christine Carqueville

Martha Saker, M.D.

Children's Memorial Hospital

Abstract

5 year old female

Keywords

Cleidocranial dysplasia, dysostosis, clavicle defect, hypoplasia, wormian bones, plain film


Publication Date: 2005-03-09

History

5 year old female

Findings

The skull radiographs demonstrate wormian bones, wide cranial sutures and lack of ossification of portions of the cranial vault.

The chest radiograph demonstrates absent clavicles.

The abdominal view demonstrates underdevelopment of the pubic bones.

Diagnosis

Cleidocranial dysplasia.

Differential

The differential diagnosis should include pyknodysotosis, osteogenesis imperfecta, hypophosphatasia, hypothyroidism, progeeria and Yunis-Varon syndrome.

Discussion

Cleidocranial dysplasia is an autosomal dominant disorder caused by mutations of the CBFA1 gene located on chromosopme 6. Children present with broad forehead with prominent parietal and frontal bones separated by metopic groove, delayed closure of the anterior fontanel, small face, widely spaced eyes, small maxilla, clavicular hypoplasia or absence, narrow chest, persistence of deciduous teeth.

Major radiographic features include the following: retarted ossification of the skull (particularly in the newborn) with partial lack of ossification of the calvaria and skull base, delayed closure of sutures and fontanels with multiple Wormian bones; underpneumatization, platybasia, enlarged or deformed foramen magnum; partial or total absence of clavicles; absent ossification of pubic bones in early infancy, underdevelopment of the pubic and inferior portion of ischial bones in childhood; wide pubic symphysis; numerous, large pseudoepiphyses of metacarpal and metatarsal bones; dysplasia of the middle phalanx of the fifth finger; shortening of the distal phalanges; thick epiphyseal ossification centers; retarted ossification of the carpal and tarsal bones and the vertebral bodies.

References

  1. Spranger, J., Brill, P., Poznanski, A., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 41.

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