. Author manuscript; available in PMC: 2017 Aug 1.

Published in final edited form as: Am J Med Genet A. 2016 May 30;170(10):2652–2661. doi: 10.1002/ajmg.a.37772

TABLE II.

Major Radiological Features

Case number	R96-252^a	R07-401^a	R08-041^a	R05-427^a	R89-051^b	R06-374^b	R11-456^b	R15-166^b	R11-114^b	R07-513^b	R16-035^b
Age of at time of radiographs	28 wk	27 wk	31 wk	22 wk	38 wk	22 wk	1 month	35 wk	30 wk	18 wk	36 wk
Mustache-shaped clavicles	+	+	+	+	+	+	+	+	+	+	+
Hands angel-shaped phalanges/metacarpals	+	+	+	NA	+	+	+	+	+	NA	+
Feet angel-shaped phalanges/metatarsals	+	+	+	NA	NA	+	+	+	NA	NA	+
Bent femora	+	+	+	+	+	+	+	+	+	+	+
Craniosynostosis	+	NA	+	+	+	+	+	−	+	+	+
Decreased skull ossification	−	NA	+	+	+	+	−	+	+	+	+
Abnormally formed teeth	+	NA	+	+	+	+	NA	−	3	NA	+

NA, not available; wk, weeks.

Previously published [Merrill et al., 2012].

Newly described cases.