Advanced search
Publication Cover
Pediatric Pathology & Molecular Medicine Volume 21, 2002 - Issue 5
Journal homepage
11
Views
3
CrossRef citations to date
0
Altmetric
Research Article

AN AUTOPSY CASE OF PENA-SHOKEIR SYNDROME: SEVERE RETARDATION OF SKELETAL MUSCLE DEVELOPMENT COMPARED WITH NEURONAL ABNORMALITIES

Ikuko Torii Department of Pathology, 1st Unit, Shimane Medical University, Izumo-city, Shimane, JapanCorrespondence[email protected]
,
Shigeru Morikawa Department of Pathology, 1st Unit, Shimane Medical University, Izumo-city, Shimane, Japan
,
Junichi Tanaka Department of Neuropathology, The Jikei University School of Medicine, Tokyo, Japan
&
Junko Takahashi Department of Neuropathology, The Jikei University School of Medicine, Tokyo, Japan
Pages 467-476 | Published online: 09 Jul 2009

  • Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankeloses, facial anomalies, and pulmonary hypoplasia: A lethal conditon. J Pediatr 1974;85:373-375.
  • Punnett HH, Kistrnmacher ML, Valdes-Dapena M, Ellison RT. Syndrome of ankyloses, facial anomalies, and pulmonary hypoplasia. J Pediatr 1974;85:375-377.
  • Mease AD, Yeatman GW, Pettett G, Merenstein GB. A syndrome of ankyloses, facial anomalies, and pulmonary hypoplasia secondary to fetal neuromuscular dysfunction. Birth Defects 1976;13:193-200.
  • DimmickJE, Berry K, MacLeod PM, Hardwick DF. Syndrome of ankyloses, facial anomalies, and pulmonary hypoplasia: A pathologic analysis of one infant. Birth Defects 1977;13:133-137.
  • Pena SDJ, Shokeir MHK. Autosomal recessive cerebro-oculo-facial-skeleta 1 ( COFS) syndrome. Clin Genet 1974-,5:285-293.
  • Pena SDJ, Evans J, Hunter AGW. COFS syndrome revisited. Birth Defects 1997;14:205-218.
  • Moessinger AC. Fetal akinesia deformation sequence: An animal model. Pediatrics 1983;72:857-863.
  • Rodrequez JI, Palazios J. Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence. Am J Med Gen 1991;40:284-289.
  • Hodeo Y, Junko H, Hideaki Y, Yasushi N, Akihiro M, Yoichi N. Olfactory bulb dysplasia: A novel subtype of neuronal migration disorder. Ann Neurol 1999;46:783-786.
  • Tetsuo S, Fumihiko K, Sachio T, Hiroo M, Nobuo W. Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome. Brain & Development 1997;19:58-62.
  • Williams RS, Lewis BH. The syndrome of multiple ankiloses and facial anomlies. Acta Neuropathol 1980;50:175-179.
  • Jensen ML, Rix M, Schroder HD, Teglbjaerg PS, Ebbesen F. Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy. Clin Neropathol 1995;14:105-108.
  • Vassiolopoulos D, Emery AEH. Quantitative histochemistry of the spinal motor neuron nucleus during human fetal development. J Neurol Sci 1977;32:275-281.
  • Oppenheim RW, Pittman R, Gray M, Maderdrut JL. Embryonic behavior, hatching, and neuromuscular development following transient reduction of spontaneous motility and sensory input by neuromuscular blocking agents. J Comp Neurol 1978;79:619-640.
  • Catherine T, Alex EM, Gabrielle M, Juana B, Robert GK. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genetics 1992;1:192-195.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.