Myhre syndrome: Age-dependent progressive phenotype

Pediatr Int. 2017 Nov;59(11):1205-1206. doi: 10.1111/ped.13413.

Authors

Risa Nomura^{1

2}, Kentaro Miyai^{1

3}, Gen Nishimura⁴, Kenichi Kashimada¹, Tomohiro Morio¹

Affiliations

¹ Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Ibaraki, Japan.
² Department of Pediatrics, Tsuchiura Kyodo General Hospital, Ibaraki, Japan.
³ Departments of Endocrinology and Metabolism, Saitama Medical University Hospital, Saitama, Japan.
⁴ Department of Intractable Disease Center, Saitama Medical University Hospital, Saitama, Japan.

PMID: 29359479
DOI: 10.1111/ped.13413

No abstract available

Keywords: SMAD4; Myhre syndrome; brachydactyly; metacarpophalangeal pattern profile; short stature.

Publication types

Case Reports

MeSH terms

Age Factors
Child
Child, Preschool
Cryptorchidism / diagnosis*
Disease Progression
Facies
Growth Disorders / diagnosis*
Hand Deformities, Congenital / diagnosis*
Humans
Intellectual Disability / diagnosis*
Male
Phenotype*

Supplementary concepts

Growth mental deficiency syndrome of Myhre