| Literature DB >> 3278612 |
M G Butler1, A B Fogo, D A Fuchs, F S Collins, V G Dev, J A Phillips.
Abstract
We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.Entities:
Mesh:
Year: 1988 PMID: 3278612 PMCID: PMC5083070 DOI: 10.1002/ajmg.1320290119
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299