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Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence.
Am J Med Genet. 1988 Jan; 29(1):59-65.AJ

Abstract

We report on a familial case of Pena-Shokeir syndrome type I (fetal akinesia deformation sequence) born to healthy parents. The antenatal ultrasound diagnosis was based on hydramnios, restricted limb movements, decreased fetal chest movements, small chest, arthrogryposis, clubfoot, fixed extension of knees, fixed flexion of elbows, camptodactyly, kyphosis of thoracic spine, cryptorchidism, and small muscle bulk. Thymic hyperplasia was noted at autopsy.

Authors+Show Affiliations

University of Toronto Regional Perinatal Unit, Women's College Hospital, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3278614

Citation

Ohlsson, A, et al. "Prenatal Sonographic Diagnosis of Pena-Shokeir Syndrome Type I, or Fetal Akinesia Deformation Sequence." American Journal of Medical Genetics, vol. 29, no. 1, 1988, pp. 59-65.
Ohlsson A, Fong KW, Rose TH, et al. Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. Am J Med Genet. 1988;29(1):59-65.
Ohlsson, A., Fong, K. W., Rose, T. H., & Moore, D. C. (1988). Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. American Journal of Medical Genetics, 29(1), 59-65.
Ohlsson A, et al. Prenatal Sonographic Diagnosis of Pena-Shokeir Syndrome Type I, or Fetal Akinesia Deformation Sequence. Am J Med Genet. 1988;29(1):59-65. PubMed PMID: 3278614.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence. AU - Ohlsson,A, AU - Fong,K W, AU - Rose,T H, AU - Moore,D C, PY - 1988/1/1/pubmed PY - 1988/1/1/medline PY - 1988/1/1/entrez SP - 59 EP - 65 JF - American journal of medical genetics JO - Am J Med Genet VL - 29 IS - 1 N2 - We report on a familial case of Pena-Shokeir syndrome type I (fetal akinesia deformation sequence) born to healthy parents. The antenatal ultrasound diagnosis was based on hydramnios, restricted limb movements, decreased fetal chest movements, small chest, arthrogryposis, clubfoot, fixed extension of knees, fixed flexion of elbows, camptodactyly, kyphosis of thoracic spine, cryptorchidism, and small muscle bulk. Thymic hyperplasia was noted at autopsy. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3278614/Prenatal_sonographic_diagnosis_of_Pena_Shokeir_syndrome_type_I_or_fetal_akinesia_deformation_sequence_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=29&issue=1&spage=59 DB - PRIME DP - Unbound Medicine ER -