The patient is the first child of non-consanguineous parents with an ordinary family history, as well as uncomplicated pregnancy and delivery. The patient was born at term with birth weight of 2850 g and length of 47 cm. Normal female external genitalia was observed and the child was identified as female. At the age of 20 months she was diagnosed with tuberculosis and malnourished which were promptly treated. Since she was 6 months-old she had growth faltering, and at 18-months-old, height for age was consecutively below 3rd percentile (NCHS-CDC 2000). There was no catch up growth despite tuberculosis treatment and appropriate diet. She was hypotonic and her developmental milestones were also delayed. She started crawling at 9 months, walking at 16 months and babbling which persisted until 18 months of age in addition to poor progression of speech ability. She was stated to have Sensory Integration Disorder (SID) and underwent speech therapy. At the age of 2-years-old her bone age was delayed (9 months).
The patient was completely evaluated at 5 years and 2 months of age. Clinical examination disclosed a height of 99 cm (below 3rd percentile), weight of 17.5 kg (below 85th percentile) and BMI 17.85 kg/m2 (below 50th percentile). She was referred for karyotyping due to short stature. Karyotyping results showed mos 46,XY,r(9)[31]/45,XY,-9[9]. Patient did not undergo any therapy due to parental refusal.