New syndrome of skeletal, dental and hair anomalies

Birth Defects Orig Artic Ser. 1975;11(2):372-9.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Bone and Bones / abnormalities
  • Female
  • Hair / abnormalities
  • Humans
  • Infant
  • Male
  • Syndrome
  • Tooth Abnormalities / complications