Items tagged “cases.refs”
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Otopalatodigital syndrome type I
Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of 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 ...
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...