Case report: Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

J. R. Shapiro; V. E. Burn; S. D. Chipman; J. B. Jacobs; B. Schloo; L. Reid; N. Larsen; F. Louis

doi:10.1016/8756-3282(89)90049-5

Case report: Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

J. R. Shapiro, V. E. Burn, S. D. Chipman, J. B. Jacobs, B. Schloo, L. Reid, N. Larsen, F. Louis

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

40 Scopus citations

Abstract

Perinatal lethal osteogenesis imperfecta (OI type II), a heritable disorder of connective tissue occurs approximately once in 60,000 live births. Phenotypic characteristics include defective cranial ossification and severe skeletal deformity due to intrauterine rib and long bone fractures. Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. Pulmonary hypoplasia has been previously observed in OI type II, but has not been defined clinically. The infant described herein was born with OI type II and pulmonary hypoplasia. Pathological examination of airway branching patterns indicated that lung development had progressed to only the 10 week stage with immature acinar development. Investigation of type I collagen synthesis by cultured dermal fibroblasts revealed the presence of electrophoretically abnormal alpha 1(I) polypeptides. These findings suggest that biochemically regulated processes, as well as mechanical factors, may impeded pulmonary development in similar cases of OI type II.

Original language	English (US)
Pages (from-to)	165-171
Number of pages	7
Journal	Bone
Volume	10
Issue number	3
DOIs	https://doi.org/10.1016/8756-3282(89)90049-5
State	Published - 1989
Externally published	Yes

Keywords

Fibroblasts
I collagen
Lung development
Osteogenesis imperfecta
Pulmonary hypoplasia
Type

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Histology
Physiology

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10.1016/8756-3282(89)90049-5

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title = "Case report: Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen",

abstract = "Perinatal lethal osteogenesis imperfecta (OI type II), a heritable disorder of connective tissue occurs approximately once in 60,000 live births. Phenotypic characteristics include defective cranial ossification and severe skeletal deformity due to intrauterine rib and long bone fractures. Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. Pulmonary hypoplasia has been previously observed in OI type II, but has not been defined clinically. The infant described herein was born with OI type II and pulmonary hypoplasia. Pathological examination of airway branching patterns indicated that lung development had progressed to only the 10 week stage with immature acinar development. Investigation of type I collagen synthesis by cultured dermal fibroblasts revealed the presence of electrophoretically abnormal alpha 1(I) polypeptides. These findings suggest that biochemically regulated processes, as well as mechanical factors, may impeded pulmonary development in similar cases of OI type II.",

keywords = "Fibroblasts, I collagen, Lung development, Osteogenesis imperfecta, Pulmonary hypoplasia, Type",

author = "Shapiro, {J. R.} and Burn, {V. E.} and Chipman, {S. D.} and Jacobs, {J. B.} and B. Schloo and L. Reid and N. Larsen and F. Louis",

note = "Funding Information: Acknowledgment : The authors are indebted to Dr. Joseph Kennedy, Director of the Perinatal Unit and Chief of Pediatrics, and to Dr. Douglas Kosa, Department of Radiology, both of St . Margaret's Hospital for Women . S . Jane Greiesbach provided excellent photographic assistance . This study was supported by grants from the March of Dimes 6-612 and NIH AM-38370 .",

year = "1989",

doi = "10.1016/8756-3282(89)90049-5",

language = "English (US)",

volume = "10",

pages = "165--171",

journal = "Bone",

issn = "8756-3282",

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T1 - Case report

T2 - Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

AU - Shapiro, J. R.

AU - Burn, V. E.

AU - Chipman, S. D.

AU - Jacobs, J. B.

AU - Schloo, B.

AU - Reid, L.

AU - Larsen, N.

AU - Louis, F.

N1 - Funding Information: Acknowledgment : The authors are indebted to Dr. Joseph Kennedy, Director of the Perinatal Unit and Chief of Pediatrics, and to Dr. Douglas Kosa, Department of Radiology, both of St . Margaret's Hospital for Women . S . Jane Greiesbach provided excellent photographic assistance . This study was supported by grants from the March of Dimes 6-612 and NIH AM-38370 .

PY - 1989

Y1 - 1989

N2 - Perinatal lethal osteogenesis imperfecta (OI type II), a heritable disorder of connective tissue occurs approximately once in 60,000 live births. Phenotypic characteristics include defective cranial ossification and severe skeletal deformity due to intrauterine rib and long bone fractures. Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. Pulmonary hypoplasia has been previously observed in OI type II, but has not been defined clinically. The infant described herein was born with OI type II and pulmonary hypoplasia. Pathological examination of airway branching patterns indicated that lung development had progressed to only the 10 week stage with immature acinar development. Investigation of type I collagen synthesis by cultured dermal fibroblasts revealed the presence of electrophoretically abnormal alpha 1(I) polypeptides. These findings suggest that biochemically regulated processes, as well as mechanical factors, may impeded pulmonary development in similar cases of OI type II.

AB - Perinatal lethal osteogenesis imperfecta (OI type II), a heritable disorder of connective tissue occurs approximately once in 60,000 live births. Phenotypic characteristics include defective cranial ossification and severe skeletal deformity due to intrauterine rib and long bone fractures. Lethal OI may be associated with intracranial hemorrhage or severe respiratory insufficiency. Pulmonary hypoplasia has been previously observed in OI type II, but has not been defined clinically. The infant described herein was born with OI type II and pulmonary hypoplasia. Pathological examination of airway branching patterns indicated that lung development had progressed to only the 10 week stage with immature acinar development. Investigation of type I collagen synthesis by cultured dermal fibroblasts revealed the presence of electrophoretically abnormal alpha 1(I) polypeptides. These findings suggest that biochemically regulated processes, as well as mechanical factors, may impeded pulmonary development in similar cases of OI type II.

KW - Fibroblasts

KW - I collagen

KW - Lung development

KW - Osteogenesis imperfecta

KW - Pulmonary hypoplasia

KW - Type

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Case report: Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

Abstract

Keywords

ASJC Scopus subject areas

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