Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?

F Kurt; S Ceylaner; H I Yakut

Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome?

Genet Couns. 2013;24(1):75-80.

Authors

F Kurt¹, S Ceylaner, H I Yakut

Affiliation

¹ Ministry of Health Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.

PMID: 23610868

Abstract

We report a patient with acromesomelic dysplasia, cardiac and neurologic abnormalities. This may be a new syndrome or cardiac and neurologic features may be undescribed rare features of acromesomelic dysplasia.

Publication types

Case Reports

MeSH terms

Brain / pathology
Child, Preschool
Dwarfism / complications*
Dwarfism / diagnosis*
Dysostoses*
Echocardiography / methods
Female
Heart Defects, Congenital / complications*
Heart Defects, Congenital / diagnosis
Humans
Intellectual Disability*
Magnetic Resonance Imaging / methods
Nervous System Malformations / complications*
Nervous System Malformations / diagnosis
Osteochondrodysplasias / complications*
Osteochondrodysplasias / diagnosis*
Syndrome

Supplementary concepts

Acrodysostosis
Acromesomelic dysplasia