The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis
- PMID: 7415811
- DOI: 10.1007/BF00688750
The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis
Abstract
An infant with the clinical syndrome of multiple joint ankyloses and facial anomalies was examined at autopsy. Neuropathologic analysis disclosed reduced numbers of spinal motor neurons and denervation atrophy of skeletal muscle as the basis for joint ankyloses. A comparison of the neuropathologic findings in this case to those to other clinically similar cases reported recently confirms that the phenotype is not specific, and occurs in a variety of neuro-muscular diseases only some of which are likely to be inherited as an autosomal recessive trait. Diagnostic evaluation of these disorders should include both chromosomal analysis and confirmation of the underlying pathologic process.
Similar articles
-
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy.J Pediatr. 1983 Aug;103(2):238-41. doi: 10.1016/s0022-3476(83)80352-7. J Pediatr. 1983. PMID: 6875715
-
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia: a pathologic analysis of one infant.Birth Defects Orig Artic Ser. 1977;13(3D):133-7. Birth Defects Orig Artic Ser. 1977. PMID: 922132 No abstract available.
-
Fetal akinesia deformation sequence (Pena-Shokeir phenotype) associated with acquired intrauterine brain damage.Neurology. 1991 Sep;41(9):1467-8. doi: 10.1212/wnl.41.9.1467. Neurology. 1991. PMID: 1891100
-
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings.J Matern Fetal Neonatal Med. 2019 Feb;32(3):502-511. doi: 10.1080/14767058.2017.1381683. Epub 2017 Sep 27. J Matern Fetal Neonatal Med. 2019. PMID: 28954562 Review.
-
Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.Neuropediatrics. 1994 Dec;25(6):308-15. doi: 10.1055/s-2008-1073045. Neuropediatrics. 1994. PMID: 7770128 Review.
Cited by
-
Pathologic features in two siblings with the Pena-Shokeir I syndrome.Eur J Pediatr. 1987 May;146(3):283-7. doi: 10.1007/BF00716474. Eur J Pediatr. 1987. PMID: 3595647
-
Lethal congenital contracture syndrome: further delineation and genetic aspects.J Med Genet. 1994 Jul;31(7):521-7. doi: 10.1136/jmg.31.7.521. J Med Genet. 1994. PMID: 7966188 Free PMC article.