An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology | Zendy

Stinson Jennifer L. | Zendy; Brault Jennifer A. | Zendy; Delk Paula R. | Zendy; Graham Brett H. | Zendy; Karmazyn Boaz | Zendy; Hall Bryan | Zendy; Weaver David D. | Zendy

Premium

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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research