Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.
We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.
Guion-Almeida
M L
ML
Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.
Zechi-Ceide
R M
RM
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D001938:Brazil; D002675:Child, Preschool; D002972:Cleft Palate / Q000473:pathology; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005384:Finger Joint / Q000002:abnormalities; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000473:pathology; D006130:Growth Disorders / Q000151:congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000473:pathology; D008875:Middle Aged; D013577:Syndrome