[Report on a variant of the fetal-face-syndrome with acral dysostosis (Robinow-Silverman-Smith-Syndrome) (author's transl)].
Besides the typical clinical symptoms of Robinow-Silverman-Smith-syndrome our patient shows a severe dislocation of the hip, feeding difficulties, and a marked morphological and mental retardation. The karyotype was normal, we found a normal banding pattern of all chromosomes (G-banding). In the family of our proband we observed minor skeletal abnormalities.
D001835:Body Weight; D003937:Diagnosis, Differential; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis*; D006618:Hip Dislocation, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D013577:Syndrome
Bericht über eine Sonderform des Fetalgesicht-Minderwuchs-Syndroms (Robinow-Silverman-Smith-Syndrom)