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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.
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 …
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 …
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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 …
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