Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs.
Graziadio
Carla
C
Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, RS, Brazil.
Rosa
Rafael F M
RF
Zen
Paulo R G
PR
Flores
José A M
JA
Paskulin
Giorgio A
GA
D000328:Adult; D002648:Child; D003025:Clubfoot / Q000150:complications; D004413:Dysostoses / Q000150:complications* / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D038061:Lower Extremity Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging; D008334:Mandible / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D011859:Radiography; D055815:Young Adult