Tags

Type your tag names separated by a space and hit enter

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
Clin Dysmorphol. 1993 Oct; 2(4):317-21.CD

Abstract

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

Authors+Show Affiliations

Centro di Genetica Umana, Ospedali Galliera, Genova, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8305962

Citation

Camera, G, et al. "Peters'-Plus Syndrome With Agenesis of the Corpus Callosum: Report of a Case and Confirmation of Autosomal Recessive Inheritance." Clinical Dysmorphology, vol. 2, no. 4, 1993, pp. 317-21.
Camera G, Centa A, Pozzolo S, et al. Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. Clin Dysmorphol. 1993;2(4):317-21.
Camera, G., Centa, A., Pozzolo, S., & Camera, A. (1993). Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. Clinical Dysmorphology, 2(4), 317-21.
Camera G, et al. Peters'-Plus Syndrome With Agenesis of the Corpus Callosum: Report of a Case and Confirmation of Autosomal Recessive Inheritance. Clin Dysmorphol. 1993;2(4):317-21. PubMed PMID: 8305962.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance. AU - Camera,G, AU - Centa,A, AU - Pozzolo,S, AU - Camera,A, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 317 EP - 21 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 2 IS - 4 N2 - We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/8305962/Peters'_Plus_syndrome_with_agenesis_of_the_corpus_callosum:_report_of_a_case_and_confirmation_of_autosomal_recessive_inheritance_ DB - PRIME DP - Unbound Medicine ER -