hrp0086p2-p938 | Thyroid P2 | ESPE2016

Distal Monosomy 10q Presented as Congenital Hypothyroidism

Braha Elena Emanuela , Rusu Cristina , Armasu Ioana , Belceanu Alina , Popescu Roxana , Bursuc Anamaria , Vulpoi Carmen

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...