Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.
We report on a male patient with a constellation of malformations, including cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect (CHD), and growth retardation. A similar association has been previously reported twice [Richieri-Costa and Orquizas (1987) Rev Brasil Genet X:787-792; Giannotti et al. (1995) J Med Genet 32:72-74], and autosomal recessive inheritance was proposed.
Guion-Almeida
M L
ML
Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brasil.
Zechi-Ceide
R M
RM
Richieri-Costa
A
A
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002971:Cleft Lip / Q000473:pathology; D002972:Cleft Palate / Q000473:pathology; D002658:Developmental Disabilities / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed