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Quoted phrase not found in phrase index: "Short-rib thoracic dysplasia 18 with polydactyly"
Page 1
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet-Biedl syn …
Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short …
Recurrent short rib-polydactyly syndrome with unusual associations.
Shindel B, Wise S. Shindel B, et al. J Clin Ultrasound. 1999 Mar-Apr;27(3):143-6. doi: 10.1002/(sici)1097-0096(199903/04)27:3<143::aid-jcu7>3.0.co;2-r. J Clin Ultrasound. 1999. PMID: 10064412
Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, and polydactyly. ...Although cystic hygromas are not uncommonly seen in skeletal dysplasias, the presence of concomitant cyst …
Short rib-polydactyly syndrome (SRPS) is manifested by short-limb dwarfism, short ribs with thoracic hypoplasia, …
Early prenatal sonographic diagnosis and follow-up of Jeune syndrome.
den Hollander NS, Robben SG, Hoogeboom AJ, Niermeijer MF, Wladimiroff JW. den Hollander NS, et al. Ultrasound Obstet Gynecol. 2001 Oct;18(4):378-83. doi: 10.1046/j.0960-7692.2001.00530.x. Ultrasound Obstet Gynecol. 2001. PMID: 11779000 Free article.
Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six short-rib (polydactyly) syndromes. The disease has a wide spectrum of manifestations, ranging from a latent to a mild or leth …
Jeune syndrome or asphyxiating thoracic dysplasia is an autosomal recessive osteochondrodysplasia. It is one of the six sho …