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Recurrent short rib polydactyly syndrome.
Eleftheriades M, Iavazzo C, Manolakos E, Hassiakos D, Botsis D, Petersen M, Konstantinidou A. Eleftheriades M, et al. J Obstet Gynaecol. 2013 Jan;33(1):14-6. doi: 10.3109/01443615.2012.698334. J Obstet Gynaecol. 2013. PMID: 23259870 Free article. Review.
We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of short-rib polydactyly syndrome (SRPS) was feasible by ultrasound during the 1st trimester of pregnancy. SRPS represents a h …
We present three consecutive cases of skeletal dysplasias of a non-consanguineous couple with five pregnancies. The diagnosis of s
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Lin AE, et al. Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24123776 Review.
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial appearance, skeletal, ectodermal, connective tissue, renal, and liver anomalies. ...Metaphyseal dysplasia with narrow thorax, p …
Sensenbrenner syndrome, also known as cranioectodermal dysplasia, is a rare multiple anomaly syndrome with distinctive craniofacial a …