New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis.
The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognathia, a hypoplasic clavicle, median mandible cleft, bilateral hand abnormalities and talipes, laryngeal malformations, hip subluxation with acetabular dysplasia and mesomelic shortening of limbs. A few reported patients have clavicular hyploplasia but hip subluxation with acetabular dysplasia and mesomelic shortening of limbs have not been described.
Golbert
Marcelo B
MB
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
Dewes
Lucas O
LO
Philipsen
Viviane R
VR
Wachholz
Rebeca S
RS
Deutschendorf
Caroline
C
Leite
Júlio C L
JCL
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D003394:Craniofacial Dysostosis / Q000473:pathology*; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008844:Micrognathism / Q000473:pathology; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging