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Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn.
J Perinat Med. 1989; 17(5):381-4.JP

Abstract

Rubinstein-Taybi is a rare malformative syndrome characterized by dysmorphic features and mental retardation. Early diagnosis in neonatal age can be facilitated by the presence of characteristic broadening of the distal phalanges of thumbs and great toes. Most of the cases are sporadic. Associated malformations such as bone anomalies, heart malformations, cell immunity deficits and metabolic alterations have been observed. This paper reports the first case of Rubinstein-Taybi syndrome associated with Dandy-Walker type cerebral malformation diagnosed in the neonatal period.

Authors+Show Affiliations

Pediatric Clinic II, Catania University, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2625658

Citation

Mazzone, D, et al. "Rubinstein-Taybi Syndrome Associated With Dandy-Walker Cyst. Case Report in a Newborn." Journal of Perinatal Medicine, vol. 17, no. 5, 1989, pp. 381-4.
Mazzone D, Milana A, Praticò G, et al. Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn. J Perinat Med. 1989;17(5):381-4.
Mazzone, D., Milana, A., Praticò, G., & Reitano, G. (1989). Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn. Journal of Perinatal Medicine, 17(5), 381-4.
Mazzone D, et al. Rubinstein-Taybi Syndrome Associated With Dandy-Walker Cyst. Case Report in a Newborn. J Perinat Med. 1989;17(5):381-4. PubMed PMID: 2625658.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn. AU - Mazzone,D, AU - Milana,A, AU - Praticò,G, AU - Reitano,G, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 381 EP - 4 JF - Journal of perinatal medicine JO - J Perinat Med VL - 17 IS - 5 N2 - Rubinstein-Taybi is a rare malformative syndrome characterized by dysmorphic features and mental retardation. Early diagnosis in neonatal age can be facilitated by the presence of characteristic broadening of the distal phalanges of thumbs and great toes. Most of the cases are sporadic. Associated malformations such as bone anomalies, heart malformations, cell immunity deficits and metabolic alterations have been observed. This paper reports the first case of Rubinstein-Taybi syndrome associated with Dandy-Walker type cerebral malformation diagnosed in the neonatal period. SN - 0300-5577 UR - https://www.unboundmedicine.com/medline/citation/2625658/Rubinstein_Taybi_syndrome_associated_with_Dandy_Walker_cyst__Case_report_in_a_newborn_ L2 - https://www.diseaseinfosearch.org/result/2112 DB - PRIME DP - Unbound Medicine ER -