1.
Am J Med Genet A
; 182(7): 1562-1571, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32426895
RESUMO
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.