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4p partial monosomy syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008). [from OMIM]
Congenital elevation of scapula
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). [from HPO]
Rib segmentation abnormalities
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