Tags

Type your tag names separated by a space and hit enter

Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature.
Am J Med Genet. 1980; 7(2):205-13.AJ

Abstract

A newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib-polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. The material appeared by staining reactions to be a glycoprotein that was seen electron microscopically to accumulate within dilated cisterns of rough endoplasmic reticulum. Similar cytoplasmic inclusions have not been seen in other short rib-polydactyly syndromes, including SRP types 1 and 2, Jeune syndrome, and Ellis-van Creveld syndrome. It is often difficult to differentiate cases of type 3 and type 1 (Saldino-Noonan) syndrome, and in the past the diagnosis has sometimes been confused. A review of previously reported cases showed that type 3 syndrome rarely (1 in 13) had cloacal developmental abnormalities, which are invariably present in patients with type 1 syndrome. Type 3 is also associated with a lower incidence of congenital heart disease, and cardiac malformations, when present, differ from those associated with type 1 syndrome. Both type 3 and type type 1 SRP syndromes are transmitted in autosomal recessive fashion. Type 3 SRP syndrome has had an equal sex distribution, although type 1 has so far been reported to occur only in girls. Further investigation with additional patients is necessary to verify the above preliminary findings.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7468648

Citation

Yang, S S., et al. "Short Rib-polydactyly Syndrome, Type 3 With Chondrocytic Inclusions: Report of a Case and Review of the Literature." American Journal of Medical Genetics, vol. 7, no. 2, 1980, pp. 205-13.
Yang SS, Lin CS, Al Saadi A, et al. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Am J Med Genet. 1980;7(2):205-13.
Yang, S. S., Lin, C. S., Al Saadi, A., Nangia, B. S., & Bernstein, J. (1980). Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. American Journal of Medical Genetics, 7(2), 205-13.
Yang SS, et al. Short Rib-polydactyly Syndrome, Type 3 With Chondrocytic Inclusions: Report of a Case and Review of the Literature. Am J Med Genet. 1980;7(2):205-13. PubMed PMID: 7468648.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. AU - Yang,S S, AU - Lin,C S, AU - Al Saadi,A, AU - Nangia,B S, AU - Bernstein,J, PY - 1980/1/1/pubmed PY - 1980/1/1/medline PY - 1980/1/1/entrez SP - 205 EP - 13 JF - American journal of medical genetics JO - Am J Med Genet VL - 7 IS - 2 N2 - A newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib-polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS-positive and diastase-resistant. The material appeared by staining reactions to be a glycoprotein that was seen electron microscopically to accumulate within dilated cisterns of rough endoplasmic reticulum. Similar cytoplasmic inclusions have not been seen in other short rib-polydactyly syndromes, including SRP types 1 and 2, Jeune syndrome, and Ellis-van Creveld syndrome. It is often difficult to differentiate cases of type 3 and type 1 (Saldino-Noonan) syndrome, and in the past the diagnosis has sometimes been confused. A review of previously reported cases showed that type 3 syndrome rarely (1 in 13) had cloacal developmental abnormalities, which are invariably present in patients with type 1 syndrome. Type 3 is also associated with a lower incidence of congenital heart disease, and cardiac malformations, when present, differ from those associated with type 1 syndrome. Both type 3 and type type 1 SRP syndromes are transmitted in autosomal recessive fashion. Type 3 SRP syndrome has had an equal sex distribution, although type 1 has so far been reported to occur only in girls. Further investigation with additional patients is necessary to verify the above preliminary findings. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/7468648/Short_rib_polydactyly_syndrome_type_3_with_chondrocytic_inclusions:_report_of_a_case_and_review_of_the_literature_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1980&volume=7&issue=2&spage=205 DB - PRIME DP - Unbound Medicine ER -