"Baby rattle" pelvis dysplasia

Valérie Cormier-Daire; Ravi Savarirayan; Ralph S. Lachman; Julie A. Neidich; Kim Grace; David L. Rimoin; William R. Wilcox

doi:10.1002/ajmg.1188

"Baby rattle" pelvis dysplasia

Valérie Cormier-Daire
, Ravi Savarirayan
, Ralph S. Lachman
, Julie A. Neidich
, Kim Grace
, David L. Rimoin
, William R. Wilcox

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

6 Scopus citations

Abstract

We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification.

Original language	English
Pages (from-to)	37-42
Number of pages	6
Journal	American journal of medical genetics
Volume	100
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1188
State	Published - Apr 15 2001

Keywords

Achondrogenesis
Chondroosseous
Lethal skeletal dysplasia
Mesenchymal ossification
Morphology

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10.1002/ajmg.1188

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title = "{"}Baby rattle{"} pelvis dysplasia",

abstract = "We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique {"}baby rattle{"} pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification.",

keywords = "Achondrogenesis, Chondroosseous, Lethal skeletal dysplasia, Mesenchymal ossification, Morphology",

author = "Val{\'e}rie Cormier-Daire and Ravi Savarirayan and Lachman, \{Ralph S.\} and Neidich, \{Julie A.\} and Kim Grace and Rimoin, \{David L.\} and Wilcox, \{William R.\}",

year = "2001",

month = apr,

day = "15",

doi = "10.1002/ajmg.1188",

language = "English",

volume = "100",

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journal = "American journal of medical genetics",

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TY - JOUR

T1 - "Baby rattle" pelvis dysplasia

AU - Cormier-Daire, Valérie

AU - Savarirayan, Ravi

AU - Lachman, Ralph S.

AU - Neidich, Julie A.

AU - Grace, Kim

AU - Rimoin, David L.

AU - Wilcox, William R.

PY - 2001/4/15

Y1 - 2001/4/15

N2 - We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification.

AB - We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, absent vertebral body ossification, a unique "baby rattle" pelvic configuration with tall and broad ilia, absent endochondral ossification, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossification.

KW - Achondrogenesis

KW - Chondroosseous

KW - Lethal skeletal dysplasia

KW - Mesenchymal ossification

KW - Morphology

UR - https://www.scopus.com/pages/publications/0035871927

U2 - 10.1002/ajmg.1188

DO - 10.1002/ajmg.1188

M3 - Article

C2 - 11337746

AN - SCOPUS:0035871927

SN - 0148-7299

VL - 100

SP - 37

EP - 42

JO - American journal of medical genetics

JF - American journal of medical genetics

IS - 1

ER -

"Baby rattle" pelvis dysplasia

Abstract

Keywords

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