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Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome.
Am J Med Genet. 1986 Sep; 25(1):119-29.AJ

Abstract

The prenatal ultrasonographic features found in two cases each of the Pena-Shokeir I and the trisomy 18 syndromes are described. All four cases were referred for ultrasonographic evaluation of polyhydramnios, clinically detected in the third trimester. A detailed ultrasonographic study of the craniofacial structures, intrathoracic organs, and limbs showed scalp edema, multiple ankyloses, camptodactyly, rocker-bottom feet, cardiac arrhythmias, and lung hypoplasia. Chromosome analysis showed trisomy 18 in two cases; in the other two cases the diagnosis of the Pena-Shokeir I was confirmed after delivery. The similarity of the two syndromes with respect to ultrasound findings is discussed.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

3541607

Citation

Muller, L M., and G de Jong. "Prenatal Ultrasonographic Features of the Pena-Shokeir I Syndrome and the Trisomy 18 Syndrome." American Journal of Medical Genetics, vol. 25, no. 1, 1986, pp. 119-29.
Muller LM, de Jong G. Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. Am J Med Genet. 1986;25(1):119-29.
Muller, L. M., & de Jong, G. (1986). Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. American Journal of Medical Genetics, 25(1), 119-29.
Muller LM, de Jong G. Prenatal Ultrasonographic Features of the Pena-Shokeir I Syndrome and the Trisomy 18 Syndrome. Am J Med Genet. 1986;25(1):119-29. PubMed PMID: 3541607.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome. AU - Muller,L M, AU - de Jong,G, PY - 1986/9/1/pubmed PY - 1986/9/1/medline PY - 1986/9/1/entrez SP - 119 EP - 29 JF - American journal of medical genetics JO - Am J Med Genet VL - 25 IS - 1 N2 - The prenatal ultrasonographic features found in two cases each of the Pena-Shokeir I and the trisomy 18 syndromes are described. All four cases were referred for ultrasonographic evaluation of polyhydramnios, clinically detected in the third trimester. A detailed ultrasonographic study of the craniofacial structures, intrathoracic organs, and limbs showed scalp edema, multiple ankyloses, camptodactyly, rocker-bottom feet, cardiac arrhythmias, and lung hypoplasia. Chromosome analysis showed trisomy 18 in two cases; in the other two cases the diagnosis of the Pena-Shokeir I was confirmed after delivery. The similarity of the two syndromes with respect to ultrasound findings is discussed. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3541607/Prenatal_ultrasonographic_features_of_the_Pena_Shokeir_I_syndrome_and_the_trisomy_18_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1986&volume=25&issue=1&spage=119 DB - PRIME DP - Unbound Medicine ER -