Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
Nonsyndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and toes that can be cutaneous or bony, unilateral or bilateral. We describe a patient with complex toe syndactyly and oligodactyly, some interesting skeletal hand findings and atypical facial features without other case like this described before. Cenani-Lenz syndrome (CLS) is a rare disorder with total syndactyly and irregular synostosis of carpal, metacarpal and phalanges, it may involve ulna and radius and digital rays may be absent, some of these were described with atypical facial features and one patient had renal hypoplasia and vertebral anomalies but our patient does not have the oligodactyly or syndactyly of the hands that is consistently present in all patients with CLS. The atypical facial features of our patient resemble Kabuki syndrome but oligodactyly and complex syndactyly have not been described in Kabuki syndrome and this patient has normal intelligence, and extreme eyelid defect (resembling ablepharon). Therefore, for our patient, we suggested to treat in a new condition of limb anomalies and atypical face.
Sobreira
Nara Lygia Macena
NL
Universidade Federal de Sao Paulo, Centro de Genetica Medica, Sao Paulo, Brazil.
Cernach
Mirlene Cecilia S P
MC
Brunoni
Decio
D
Perez
Ana Beatriz Alvarez
AB
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D006225:Hand; D006801:Humans; D010641:Phenotype; D011859:Radiography; D013576:Syndactyly / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging