Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance.
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.
de Almeida
J C
JC
Centro de Genética Médica, Instituto Fernandes Figueira, Rio de Janeiro, Brazil.
Reis
D F
DF
Llerena Júnior
J
J
Barbosa Neto
J
J
Pontes
R L
RL
Middleton
S
S
Telles
L F
LF
D002675:Child, Preschool; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D013577:Syndrome