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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.

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:29 Oct 2024 02:35
Publisher:De Gruyter
ISSN:0300-5577
OA Status:Green
Publisher DOI:https://doi.org/10.1515/jpme.1990.18.4.267
PubMed ID:2262870
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