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A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders
- Source :
- Prenatal Diagnosis. 26:1151-1155
- Publication Year :
- 2006
- Publisher :
- Wiley, 2006.
-
Abstract
- Background We report a 19-week gestation female foetus with a new syndrome characterised by increased nuchal translucency and severe micromelia with campomelia evident from the early second trimester. Methods and Results Cytogenetic studies performed on amniocytes revealed a normal female karyotype. Autopsy after termination of pregnancy showed facial dysmorphism, cleft palate, bowed, shortened limbs, hypoplasia of the preaxial elements in all four limbs with accompanying accessory ossification centres in the feet, and severe calvarial underossification. A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. The degree of undermodelling and campomelia was reminiscent of another group of conditions that include atelosteogenesis types 1 and 3, caused by mutations in FLNB. Sequencing analysis did not reveal any pathogenic mutation in the three paralogous filamin genes: FLNA, FLNB and FLNC. Conclusion Clinical, radiological and cytogenetic findings suggest that this phenotype is a new entity whose aetiopathogenesis may be functionally related to the filaminopathies. Copyright © 2006 John Wiley & Sons, Ltd.
- Subjects :
- Adult
Pathology
medicine.medical_specialty
Filamins
Osteochondrodysplasias
Filamin
Contractile Proteins
Pregnancy
medicine
Humans
FLNA
Abnormalities, Multiple
FLNB
Genetics (clinical)
Ultrasonography
Polydactyly
business.industry
Microfilament Proteins
Preaxial polydactyly
Obstetrics and Gynecology
Dysostosis
Abortion, Induced
Anatomy
medicine.disease
Osteochondrodysplasia
Cleft Palate
body regions
Bone Diseases, Metabolic
Fetal Diseases
Face
Micromelia
Cytogenetic Analysis
Mutation
Female
Autopsy
business
Subjects
Details
- ISSN :
- 10970223 and 01973851
- Volume :
- 26
- Database :
- OpenAIRE
- Journal :
- Prenatal Diagnosis
- Accession number :
- edsair.doi.dedup.....bdc61813e433dd48546e704422448d64
- Full Text :
- https://doi.org/10.1002/pd.1576