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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Clinical and radiographic features of cranioectodermal dysplasia (CED)

Patient 1 (A-E):

A. Newborn with cranioectodermal dysplasia (CED) with rhizomelic shortening of the arms, narrow thorax, and characteristic facies with prominent forehead, ocular hypertelorism, and low-set ears

B. Short, broad hands with interphalangeal swelling at age 16 years

C. CED facial features in a young adult

D. Radiograph showing rhizomelia in the newborn period

E. Radiograph showing short phalanges at age nine years

Patient 2 (F-H):

F. Female with typical facial characteristics, including a prominent forehead, and bilateral epicanthal folds

G. Radiograph showing dolichocephaly in the newborn period

H. Radiograph showing narrow thorax

Images are shown with informed consent of the families/affected individuals.

From: Cranioectodermal Dysplasia

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