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Skeletal muscular changes in Pena-Shokeir Sequence


Reiser, Peter; Briner, Jakob; Schinzel, Albert (1990). Skeletal muscular changes in Pena-Shokeir Sequence. Journal of Perinatal Medicine, 18(4):267-274.

Abstract

In 1974, PENA and SHOKEIR first described alethal syndrome consisting of facial anomalies(flat and depressed nasal tip, micro- and retro-gnathia, malformed and low-set ears, hypertelo-rism), multiple ankyloses, pulmonary hypoplasiaand camptodactyly. Since then more than 60patients with the Pena-Shokeir sequence havebeen described.In addition to the lesions mentioned above, thefollowing signs were present in most cases: Still-birth or death during delivery or within a fewdays after birth, intrauterine growth retardation,cryptorchidism, polyhydramnios, abnormal pla-centa and short umbilical cord. Familial caseshave been reported.Major congenital malformations of inner organs,however, have been diagnosed in only a fewcases.Pena-Shokeir sequence is now regarded as a he-terogeneous sequence, in which different neuro-muscular lesions may play an important patho-genetic role.In our eight patients with the characteristic find-ings of the Pena-Shokeir sequence an attemptwas made to define more clearly the nature ofskeletal muscular changes observed.

Abstract

In 1974, PENA and SHOKEIR first described alethal syndrome consisting of facial anomalies(flat and depressed nasal tip, micro- and retro-gnathia, malformed and low-set ears, hypertelo-rism), multiple ankyloses, pulmonary hypoplasiaand camptodactyly. Since then more than 60patients with the Pena-Shokeir sequence havebeen described.In addition to the lesions mentioned above, thefollowing signs were present in most cases: Still-birth or death during delivery or within a fewdays after birth, intrauterine growth retardation,cryptorchidism, polyhydramnios, abnormal pla-centa and short umbilical cord. Familial caseshave been reported.Major congenital malformations of inner organs,however, have been diagnosed in only a fewcases.Pena-Shokeir sequence is now regarded as a he-terogeneous sequence, in which different neuro-muscular lesions may play an important patho-genetic role.In our eight patients with the characteristic find-ings of the Pena-Shokeir sequence an attemptwas made to define more clearly the nature ofskeletal muscular changes observed.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
04 Faculty of Medicine > University Hospital Zurich > Institute of Pathology and Molecular Pathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Obstetrics and Gynecology
Uncontrolled Keywords:Obstetrics and Gynecology, Pediatrics, Perinatology and Child Health
Language:English
Date:1 January 1990
Deposited On:26 Jan 2023 15:00
Last Modified:28 Apr 2024 01:46
Publisher:De Gruyter
ISSN:0300-5577
OA Status:Green
Publisher DOI:https://doi.org/10.1515/jpme.1990.18.4.267
PubMed ID:2262870
  • Content: Published Version
  • Language: English