Abstract
A 20-year-old woman, a product of a nonconsanguinous mating, was first referred for evaluation of short stature in February, 1974. The parents and two living siblings were phenotypically and hematologically normal but one brother died of unknown cause 2 days after birth. The patient was born at term, normally. But subsequent development was poor, showing L. C. C., malformation of fingers and toes and infirmity against infection. After that, she continued normal mental development, but remained shorter for her age. The menarche had occurred at the age of 18 years and her menses were irregular, occurring only 4 times a year. There was no history of ingestion of or exposure to substances known to cause bone marrow depression. Physical examination revealed a 138.2 cm tall, 26.5 kg, normally proportioned individual. There were a light brown pigmentation of the skin, DuBois' sign, brachydactylia and dental hypoplasia. No petechie, lymphadenopathy, hepatosplenomegaly and hyperreflexia were found. Hematological examinations revealed pancytopenia, espicially neutropenia, and bone marrow hypoplasia, but almost normal pattern in ferrokinetics studies. Chromosome aberrations were found in 36% of cells in lymphocyte culture. Hypogonadism was presumed by endocrinological studies. No abnormality was found in immunological examination. The patient is still being followed up in this clinic, without receiving any medication because of keeping clinical good condition.
