Numerous congenital abnormalities have been described in patients with gonadal dysgenesis.1 Many of these relate to the skeletal system2: The frequency with which these are noted varies greatly, and none is pathognomonic of the condition. A review is presented of these abnormalities, and a description is given of other bone changes that have been noted by us.
The chin in many of these patients is underdeveloped so that in profile one sees an almost straight line running backward from the tip of the chin to the sternal notch. This appearance is due to a poorly developed mandible. The associated micrognathia may cause overcrowding and delay in the eruption of the teeth; in some of these patients malocclusion has been noted.1
Abnormalities in the thoracic cage were first emphasized by Lisser et al.3 They described
the "shield-shaped chest" with the widely spaced nipples reflecting the broad
LEVIN J, KUPPERMAN HS. Skeletal Abnormalities in Gonadal Dysgenesis. Arch Intern Med. 1964;113(5):730-736. doi:10.1001/archinte.1964.00280110110021