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A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2010 Apr; Vol. 152A (4), pp. 947-9. - Publication Year :
- 2010
-
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.<br /> ((c) 2010 Wiley-Liss, Inc.)
- Subjects :
- Child
Child, Preschool
Facies
Female
Foot Deformities, Congenital complications
Foot Deformities, Congenital diagnostic imaging
Hand Deformities, Congenital diagnostic imaging
Hip abnormalities
Humans
Infant
Infant, Newborn
Pregnancy
Radiography
Scoliosis complications
Scoliosis diagnostic imaging
Syndrome
Abnormalities, Multiple pathology
Growth Disorders complications
Hand Deformities, Congenital complications
Hearing Loss complications
Intellectual Disability complications
Microcephaly complications
Orbital Diseases complications
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 152A
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 20358606
- Full Text :
- https://doi.org/10.1002/ajmg.a.33325