Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

H. J. Stern; J. M. Graham; R. S. Lachman; W. Horton; P. M. Bernini; P. K. Spiegel; J. Bodurtha; E. J. Ives; M. Bocian; D. L. Rimoin

doi:10.1002/ajmg.1320360212

Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

H. J. Stern, J. M. Graham, R. S. Lachman, W. Horton, P. M. Bernini, P. K. Spiegel, J. Bodurtha, E. J. Ives, M. Bocian, D. L. Rimoin

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Abstract

We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.

Original language	English (US)
Pages (from-to)	183-195
Number of pages	13
Journal	American journal of medical genetics
Volume	36
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.1320360212
State	Published - 1990
Externally published	Yes

Keywords

Larsen syndrome
chondrodystrophy
dwarfism
equinovarus foot deformity
fibular agenesis
joint dislocation
rhizomelia
short stature

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320360212

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Stern, H. J., Graham, J. M., Lachman, R. S., Horton, W., Bernini, P. M., Spiegel, P. K., Bodurtha, J., Ives, E. J., Bocian, M., & Rimoin, D. L. (1990). Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II. American journal of medical genetics, 36(2), 183-195. https://doi.org/10.1002/ajmg.1320360212

Stern, HJ, Graham, JM, Lachman, RS, Horton, W, Bernini, PM, Spiegel, PK, Bodurtha, J, Ives, EJ, Bocian, M & Rimoin, DL 1990, 'Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II', American journal of medical genetics, vol. 36, no. 2, pp. 183-195. https://doi.org/10.1002/ajmg.1320360212

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title = "Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II",

abstract = "We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.",

keywords = "Larsen syndrome, chondrodystrophy, dwarfism, equinovarus foot deformity, fibular agenesis, joint dislocation, rhizomelia, short stature",

author = "Stern, {H. J.} and Graham, {J. M.} and Lachman, {R. S.} and W. Horton and Bernini, {P. M.} and Spiegel, {P. K.} and J. Bodurtha and Ives, {E. J.} and M. Bocian and Rimoin, {D. L.}",

year = "1990",

doi = "10.1002/ajmg.1320360212",

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T2 - A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

AU - Stern, H. J.

AU - Graham, J. M.

AU - Lachman, R. S.

AU - Horton, W.

AU - Bernini, P. M.

AU - Spiegel, P. K.

AU - Bodurtha, J.

AU - Ives, E. J.

AU - Bocian, M.

AU - Rimoin, D. L.

PY - 1990

Y1 - 1990

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AB - We present 5 cases of a short-limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto-palato-digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.

KW - Larsen syndrome

KW - chondrodystrophy

KW - dwarfism

KW - equinovarus foot deformity

KW - fibular agenesis

KW - joint dislocation

KW - rhizomelia

KW - short stature

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Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II

Abstract

Keywords

ASJC Scopus subject areas

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