A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Gülen Eda Utine; Jeroen Breckpot; Bernard Thienpont; Yasemin Alanay; Cemalettin Aksoy; Koray Boduroğlu; Koenraad Devriendt

doi:10.1002/ajmg.a.33325

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Am J Med Genet A. 2010 Apr;152A(4):947-9. doi: 10.1002/ajmg.a.33325.

Authors

Gülen Eda Utine¹, Jeroen Breckpot, Bernard Thienpont, Yasemin Alanay, Cemalettin Aksoy, Koray Boduroğlu, Koenraad Devriendt

Affiliation

¹ Department of Pediatrics, Clinical Genetics Unit, Hacettepe University, Ankara, Turkey. [email protected]

PMID: 20358606
DOI: 10.1002/ajmg.a.33325

Abstract

In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / pathology*
Child
Child, Preschool
Facies
Female
Foot Deformities, Congenital / complications
Foot Deformities, Congenital / diagnostic imaging
Growth Disorders / complications*
Hand Deformities, Congenital / complications*
Hand Deformities, Congenital / diagnostic imaging
Hearing Loss / complications*
Hip / abnormalities
Humans
Infant
Infant, Newborn
Intellectual Disability / complications*
Microcephaly / complications*
Orbital Diseases / complications*
Pregnancy
Radiography
Scoliosis / complications
Scoliosis / diagnostic imaging
Syndrome