Diastrophic dysplasia (DTD) is an autosomal recessive skeletal disorder characterized by disproportionate short stature, talipes equinovarus, flexion contracture of the knees, ''hitchhiker thumbs,'' increased incidence of dislocation at major joints, ear abnormalities, cleft palate, and progressive scoliosis [Lachman et al., 1981]. The disorder was first delineated as a syndrome by Lamy and Maroteaux [1960]. However, the radiologic characteristics of DTD are evident in X-ray studies dating back to the first decade of this century, i.e., the medical thesis ''Achondroplasia in Humans'' [Schenk, 1910 (cited by Lamy andMaroteaux, 1960)]. Here we re-describe a patient who was initially reported as having ''achondroplasia'' in the Revista del Hospital de Nin ˜os de Buenos Aires (Journal of the Children's Hospital of Buenos Aires, ISSN 0521-517X) [Arraga, 1897]. The clinical findings, photographs, physical measurement, and radiographs clearly suggest that this girl had DTD instead.
The patient was a 6-year-old girl. She was born in 1891. There are no additional data concerning the pregnancy, delivery, birth weight, or measurements at birth. She had 4 older sibs. Her mother had had a spontaneous abortion and another baby had died in the first week of life; this baby had a phenotype very similar to that of the propositus. Her 39-year-old father was normal. At that time the girl had shortness of stature with short and bowed limbs, tarsal valgus deformity, metatarsus adductus, and a severe right knee contracture with consequent asymmetry of the lower limbs preventing normal ambulation (Fig. 1). Her height was 81 cm (-6.3 SDS), 1 lower limb length 35 cm (-6.1 SDS),