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An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia

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Hove, HD, Hermann, NV, Jørgensen, C, Kreiborg, S & Sundberg, K 2008, 'An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia' Fetal Diagnosis and Therapy, vol. 24, no. 2, pp. 103-5. https://doi.org/10.1159/000142137

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Author

Hove, H D ; Hermann, N V ; Jørgensen, C ; Kreiborg, S ; Sundberg, K. / An echo-poor spine at 13 weeks : an early sign of cleidocranial dysplasia. In: Fetal Diagnosis and Therapy. 2008 ; Vol. 24, No. 2. pp. 103-5.

Bibtex

@article{7bd393c3942d47888f6fb3fb06f17982,
title = "An echo-poor spine at 13 weeks: an early sign of cleidocranial dysplasia",
abstract = "OBJECTIVE: Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.METHODS: 2D ultrasound examination.RESULTS: At week 13+6, a 2D ultrasound examination revealed a fetus with severely delayed ossification of the vertebral spine. The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age. The fetus had otherwise normal anatomy and biometry. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but the manifestations became less distinct. The diagnosis was confirmed clinically at birth.CONCLUSION: This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD.",
keywords = "Adult, Cesarean Section, Clavicle, Cleidocranial Dysplasia, Core Binding Factor Alpha 1 Subunit, Female, Gestational Age, Humans, Live Birth, Osteogenesis, Pedigree, Pregnancy, Skull, Spine, Ultrasonography, Prenatal, Case Reports, Journal Article",
author = "Hove, {H D} and Hermann, {N V} and C J{\o}rgensen and S Kreiborg and K Sundberg",
note = "(c) 2008 S. Karger AG, Basel.",
year = "2008",
doi = "10.1159/000142137",
language = "English",
volume = "24",
pages = "103--5",
journal = "Fetal Diagnosis and Therapy",
issn = "1015-3837",
publisher = "S./Karger AG",
number = "2",

}

RIS

TY - JOUR

T1 - An echo-poor spine at 13 weeks

T2 - an early sign of cleidocranial dysplasia

AU - Hove, H D

AU - Hermann, N V

AU - Jørgensen, C

AU - Kreiborg, S

AU - Sundberg, K

N1 - (c) 2008 S. Karger AG, Basel.

PY - 2008

Y1 - 2008

N2 - OBJECTIVE: Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.METHODS: 2D ultrasound examination.RESULTS: At week 13+6, a 2D ultrasound examination revealed a fetus with severely delayed ossification of the vertebral spine. The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age. The fetus had otherwise normal anatomy and biometry. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but the manifestations became less distinct. The diagnosis was confirmed clinically at birth.CONCLUSION: This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD.

AB - OBJECTIVE: Early prenatal diagnosis of cleidocranial dysplasia (CCD) in a case in which molecular genetic analysis of the RUNX2 gene was non-informative.METHODS: 2D ultrasound examination.RESULTS: At week 13+6, a 2D ultrasound examination revealed a fetus with severely delayed ossification of the vertebral spine. The clavicles were barely seen and the calvarial bones were significantly less ossified than expected for gestational age. The fetus had otherwise normal anatomy and biometry. Serial ultrasound examinations during pregnancy confirmed the diagnosis, but the manifestations became less distinct. The diagnosis was confirmed clinically at birth.CONCLUSION: This case illustrates an early easily recognizable pattern of severely delayed ossification of the vertebral spine, which is probably a characteristic of CCD.

KW - Adult

KW - Cesarean Section

KW - Clavicle

KW - Cleidocranial Dysplasia

KW - Core Binding Factor Alpha 1 Subunit

KW - Female

KW - Gestational Age

KW - Humans

KW - Live Birth

KW - Osteogenesis

KW - Pedigree

KW - Pregnancy

KW - Skull

KW - Spine

KW - Ultrasonography, Prenatal

KW - Case Reports

KW - Journal Article

U2 - 10.1159/000142137

DO - 10.1159/000142137

M3 - Journal article

VL - 24

SP - 103

EP - 105

JO - Fetal Diagnosis and Therapy

JF - Fetal Diagnosis and Therapy

SN - 1015-3837

IS - 2

ER -

ID: 53438690