An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. Issue 7 (19th May 2020)

• Record Type: Journal Article
• Authors: Stinson, Jennifer L.; Brault, Jennifer A.; Delk, Paula R.; Graham, Brett H.; Karmazyn, Boaz; Hall, Bryan; Weaver, David D.
• Is Part Of: American journal of medical genetics. Volume 182:Issue 7(2020)
• Page Start: 1562
• Page End: 1571
• Publication Date: 2020-05-19
• Subjects: bone dysplasia -- intellectual disability -- macroglossia -- microcephaly -- short stature -- whole exome sequencing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61619
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: We report on a 26‐year‐old male with extreme short stature, microcephaly, macroglossia, other dysmorphic features, severe intellectual disability, and a bone dysplasia. The patient had an extensive genetic and biochemical evaluation that was all normal or noninformative. Recently, the proband died following a period of not eating. He likely had a previously undescribed syndrome of unknown etiology.