We report a 9 years and 6 month old boy with the Hallermann-Streiff syndrome (HSS). The patient was referred by a pediatrician. The diagnosis was established by endocrinologist based on the presence of specific facial gestalt (bird-like face) and bilateral congenital cataracts. The patient was not short, but had mild mental retardation; hypotrichosis was represented by Sign of Hertoghe (Queen Anne's sign) only. Thyroid function was normal. X-ray study yielded valuable data. The night apnoea (secondary to the dyscephalic narrowing of the upper airways) constituted the major concern. We also discuss diagnostic criteria for the HSS along with significance of various clinical signs. Combination of specific facial gestalt and ocular abnormalities should be particularly alarming. Endocrine aspects of the HSS are reviewed. X-ray study is recommended as an inexpensive and readily available but informative tool.
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