It is characterized by severe intellectual disability, short stature and abnormalities to the head and face. As these features can be seen in other conditions, karyotyping must be carried out to confirm diagnosis. [dbpedia.org]

Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scinapse.io]

It is characterized by severe intellectual disability, short stature and abnormalities to the head and face. As these features can be seen in other conditions, karyotyping must be carried out to confirm diagnosis. [dbpedia.org]

Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right [scinapse.io]

In accordance with the other authors we found a low birth weight, oligophrenia, multiple abnormalities of the craniofacial skeleton (hypertelorism, epicanthus, broad root of the nose, oblique axis of the eyelids), and some minor deformities of the fingers [ncbi.nlm.nih.gov]

Abstract Cytogenetic investigations of children with psychomotor retardation gave evidence of pentasomia X in a twelve-month-old girl. [ncbi.nlm.nih.gov]