A new arthrogryposis syndrome with facial and limb anomalies.
A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001176:Arthrogryposis / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital; D006130:Growth Disorders / Q000235:genetics; D006228:Hand Deformities, Congenital; D006257:Head / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007569:Jaw Abnormalities / Q000235:genetics; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics