Findings: An AP and lateral view of the skull demonstrates absent teeth. The upper central incisors are separated and irregular in shape. The lateral view demonstrates protuberant lips.

Diagnosis: Ectodermal dysplasia.

Discussion: Ectodermal dysplasia is an x-linked recessive syndrome seen in approximately 1/10,000 to 1/100,000 live male births.

Its clinical manifestations include hypotrichosis, hypohidrosis, unusual facies and mucous gland deficiencies. The patients typically will have oligodontia or anodontia. Frontal bossing, a saddle-shaped nose, as well as protuberant lips and ears can often be seen. Due to mucous gland deficiencies, recurrent respiratory tract infections are common. These patients can also have hearing problems secondary to accumulation of wax in the external auditory canal, eczema, and deficiency of saliva leading to dental decay.

Prenatal diagnosis can be made using DNA-based linkage analysis during the first trimester of pregnancy or direct histological analysis of fetal skin obtained by fetoscopy during the second trimester of pregnancy.

References:
Taybi H, Lachman RS. Radiology of Syndromes, Metabolic Disorder,
and Skeletal Dysplasia. Mosby 1996.

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