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An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology
Author(s) -
Stinson Jennifer L.,
Brault Jennifer A.,
Delk Paula R.,
Graham Brett H.,
Karmazyn Boaz,
Hall Bryan,
Weaver David D.
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61619
Subject(s) - short stature , microcephaly , etiology , proband , macroglossia , medicine , dysplasia , intellectual disability , pediatrics , dermatology , genetics , biology , pathology , psychiatry , tongue , mutation , gene
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.