New syndrome of skeletal, dental and hair anomalies.
A Brother and sister are presented with the following abnormalities: dolichocephaly with tendency toward premature closure of the sagittal suture; antimongoloid slant of the eyes with epicanthal folds, full cheeks, everted lip, multiple oral frenula, mildly high-arched palate, and microdontia with possible enamel defect; posteriorly rotated low-set pinnae with deficient cartilage; a small short thorax with pectus excavatum; unusual dermatoglyphics, and abnormal hair growth and stucture; disproportionate shortening of the fibulae and the middle and distal phalanges of the toes and fingers; and somewhat flattened epiphyses. A paternal aunt gave birth to a stillborn dwarfed male with some of the same clinical features. Although an autopsy was obtained, unfortunately no roentgenograms were made.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications