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Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation.
Am J Med Genet. 1989 Apr; 32(4):478-81.AJ

Abstract

A number of more or less distinct subgroups with the Pena-Shokeir phenotype have been identified. We studied two brothers with the Pena-Shokeir phenotype who were unusual because they had macrocephaly and normal growth. In the second sib, no neuromuscular abnormalities were found at autopsy. Among the subgroups with Pena-Shokeir phenotype, these sibs resemble the family reported by Ohlsson et al. [1988] more than the other subgroups that have been proposed. In addition, abnormalities were detected by prenatal ultrasonography during the 18th week of gestation of the second fetus. This finding provides additional evidence that this phenotype may be detected early enough in gestation to consider intervention.

Authors+Show Affiliations

Embryology-Teratology Unit, Massachusetts General Hospital, Boston.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

2672815

Citation

Lammer, E J., et al. "Pena-Shokeir Phenotype in Sibs With Macrocephaly but Without Growth Retardation." American Journal of Medical Genetics, vol. 32, no. 4, 1989, pp. 478-81.
Lammer EJ, Donnelly S, Holmes LB. Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. Am J Med Genet. 1989;32(4):478-81.
Lammer, E. J., Donnelly, S., & Holmes, L. B. (1989). Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. American Journal of Medical Genetics, 32(4), 478-81.
Lammer EJ, Donnelly S, Holmes LB. Pena-Shokeir Phenotype in Sibs With Macrocephaly but Without Growth Retardation. Am J Med Genet. 1989;32(4):478-81. PubMed PMID: 2672815.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation. AU - Lammer,E J, AU - Donnelly,S, AU - Holmes,L B, PY - 1989/4/1/pubmed PY - 1989/4/1/medline PY - 1989/4/1/entrez SP - 478 EP - 81 JF - American journal of medical genetics JO - Am J Med Genet VL - 32 IS - 4 N2 - A number of more or less distinct subgroups with the Pena-Shokeir phenotype have been identified. We studied two brothers with the Pena-Shokeir phenotype who were unusual because they had macrocephaly and normal growth. In the second sib, no neuromuscular abnormalities were found at autopsy. Among the subgroups with Pena-Shokeir phenotype, these sibs resemble the family reported by Ohlsson et al. [1988] more than the other subgroups that have been proposed. In addition, abnormalities were detected by prenatal ultrasonography during the 18th week of gestation of the second fetus. This finding provides additional evidence that this phenotype may be detected early enough in gestation to consider intervention. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/2672815/Pena_Shokeir_phenotype_in_sibs_with_macrocephaly_but_without_growth_retardation_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=32&issue=4&spage=478 DB - PRIME DP - Unbound Medicine ER -