Osteoglophonic dwarfism in two generations

R. I. Kelley; P. F. Borns; D. Nichols; E. H. Zackai

doi:10.1136/jmg.20.6.436

Osteoglophonic dwarfism in two generations

R. I. Kelley, P. F. Borns, D. Nichols, E. H. Zackai

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

Original language	English (US)
Pages (from-to)	436-440
Number of pages	5
Journal	Journal of medical genetics
Volume	20
Issue number	6
DOIs	https://doi.org/10.1136/jmg.20.6.436
State	Published - 1983
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1136/jmg.20.6.436

Cite this

@article{55719c42603742618293e3e68d85183f,

title = "Osteoglophonic dwarfism in two generations",

abstract = "A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.",

author = "Kelley, {R. I.} and Borns, {P. F.} and D. Nichols and Zackai, {E. H.}",

year = "1983",

doi = "10.1136/jmg.20.6.436",

language = "English (US)",

volume = "20",

pages = "436--440",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "6",

}

TY - JOUR

T1 - Osteoglophonic dwarfism in two generations

AU - Kelley, R. I.

AU - Borns, P. F.

AU - Nichols, D.

AU - Zackai, E. H.

PY - 1983

Y1 - 1983

N2 - A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

AB - A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

UR - http://www.scopus.com/inward/record.url?scp=0021013713&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0021013713&partnerID=8YFLogxK

U2 - 10.1136/jmg.20.6.436

DO - 10.1136/jmg.20.6.436

M3 - Article

C2 - 6606709

AN - SCOPUS:0021013713

SN - 0022-2593

VL - 20

SP - 436

EP - 440

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 6

ER -

Osteoglophonic dwarfism in two generations

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this