Pierre Robin anomaly with an accessory metacarpal of the index fingers. The Catel-Manzke syndrome.
A two-year-old female with the Pierre Robin anomaly and bilateral index finger malformations is described. Hypertelorism, full cheeks, posteriorly rotated ears with prominent antihelix, short neck, simian creases, bilateral fifth finger clinodactyly, and short toes with hypoplastic small nails were also present. Her mother had a subsequent pregnancy that resulted in the delivery at 26 weeks, of a stillborn female fetus with cleft palate, index finger anomalies and congenital heart disease. These two patients are the first females reported with this group of anomalies. The etiology of this combination of malformations, the Catel-Manzke syndrome, is unknown.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002972:Cleft Palate; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital; D006801:Humans; D008663:Metacarpus / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities