Items tagged “cases.refs”
2 results found
Article
Otopalatodigital syndrome type I
Otopalatodigital syndrome type I is a rare genetic disorder characterized by:
skeletal dysplasia
hearing loss
cleft palate
and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).
It is a member of ...
Article
Fuhrmann syndrome
Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by 1,2:
hypoplasia of pelvis
bowing of femur bone
polydactyly
hypoplastic fibula
symmetrical fingernail deficiency 4
tooth anomalies 5
malformed thumbs 8
It is a syndrome in which there is a partial l...