Endocrine Abstracts

We describe two very rare genetic diseases characterized by particular physical features and deviation from normal growth. The first patient, CM, was admitted for delayed growth (113 cm at 8 years of age, -3 S.D.). The child had short lower arms with small hands and clinodactyly of the fifth finger. He had round widely spaced eyes with long eyelashes, a flat profile and prominent forehead, short upturned nose, misaligned teeth and gum hypertrophy. We diagnosed a...