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1976 1
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Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML. Hing AV, et al. Am J Med Genet A. 2009 May;149A(5):1024-32. doi: 10.1002/ajmg.a.32782. Am J Med Genet A. 2009. PMID: 19396832 Review.
This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. ...Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reporte …
This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as …
Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis".
Neuhäuser G, Kaveggia EG, Opitz JM. Neuhäuser G, et al. Eur J Pediatr. 1976 Aug 16;123(1):15-28. doi: 10.1007/BF00497676. Eur J Pediatr. 1976. PMID: 954768
Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by th …
Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The …
Craniofacial dyssynostosis: a further case report.
Morton JE. Morton JE. Am J Med Genet. 1998 Aug 27;79(1):8-11. doi: 10.1002/(sici)1096-8628(19980827)79:1<8::aid-ajmg3>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9738860
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosum, and minor anomalies. The phenotype is in keeping with a diagnosis of craniofacial dyssynostosis. This autosomal recessive c …
I describe a boy with lambdoid craniosynostosis, severe global developmental delay, epilepsy, oculomotor dyspraxia, very thin corpus callosu …