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

Autor: Stinson, Jennifer L., Brault, Jennifer A., Delk, Paula R., Graham, Brett H., Karmazyn, Boaz, Hall, Bryan, Weaver, David D.
Zdroj: American Journal of Medical Genetics. Part A; Jul2020, Vol. 182 Issue 7, p1562-1571, 10p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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