Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2006 1
2007 1
2020 1
2021 1
2022 1
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

7 results

Results by year

Filters applied: . Clear all
Page 1
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L. Rosato S, et al. Genes (Basel). 2022 Jan 28;13(2):261. doi: 10.3390/genes13020261. Genes (Basel). 2022. PMID: 35205306 Free PMC article. Review.
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. ...
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a c …
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF. Schigt H, et al. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. J Clin Endocrinol Metab. 2023. PMID: 36916904 Free PMC article.
Gracile bone dysplasias.
Kozlowski K, Masel J, Sillence DO, Arbuckle S, Juttnerova V. Kozlowski K, et al. Pediatr Radiol. 2002 Sep;32(9):629-34. doi: 10.1007/s00247-002-0719-2. Epub 2002 Jun 5. Pediatr Radiol. 2002. PMID: 12195301
We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is …
We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydra …
Parietal bone agenesis with gracile bones and splenic hypoplasia/aplasia: clinico-pathologic report and differential diagnosis with review of cranio-gracile bone syndromes, "osteocraniostenosis" and Kleeblattschadel.
Spear GS. Spear GS. Am J Med Genet A. 2006 Nov 1;140(21):2341-8. doi: 10.1002/ajmg.a.31473. Am J Med Genet A. 2006. PMID: 17036309 Review.
Although parietal agenesis is unique, the findings are compatible with 18 previously reported cases characterized by cranial hypomineralization, Kleeblatschadel, gracile bones, and splenic aplasia/hypoplasia, the nomenclature for which has been descriptive: gracile bone disorders …
Although parietal agenesis is unique, the findings are compatible with 18 previously reported cases characterized by cranial hypomineralizat …
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis.
Pemberton L, Barker R, Cockell A, Ramachandran V, Haworth A, Homfray T. Pemberton L, et al. BMC Med Genet. 2020 Jan 7;21(1):7. doi: 10.1186/s12881-019-0939-z. BMC Med Genet. 2020. PMID: 31910817 Free PMC article.
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. ...
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones …
Osteocraniostenosis: a further case report documenting the antenatal findings.
Smith A, Mehta S, Bullen P, Clayton-Smith J. Smith A, et al. Clin Dysmorphol. 2007 Apr;16(2):117-120. doi: 10.1097/01.mcd.0000220619.78273.a5. Clin Dysmorphol. 2007. PMID: 17351358
Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. ...Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have not been documented previously. …
Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. ...Subsequent po …
Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
Müller R, Steffensen T, Krstić N, Cain MA. Müller R, et al. Am J Med Genet A. 2021 Jun;185(6):1903-1907. doi: 10.1002/ajmg.a.62182. Epub 2021 Mar 22. Am J Med Genet A. 2021. PMID: 33750016
Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. ...
Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in …