A female infant with the "femoral hypoplasia-unusual facies" syndrome is presented. Most of the findings observed in this child have also been described in the "caudal regression syndrome". The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.

A family is reported in which two half‐siblings present clinical findings suggestive of the Silver‐Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.

An Amish boy with cartilage-hair hypoplasia (CHH) and cell-mediated immunodeficiency developed "congenital" hypoplastic anemia (CHA) of the Diamond-Blackfan type by two months. Alterations of T cell function have been described separately in CHH and CHA, but this is the first known report linking the two conditions. The patient has two relatives with CHH, one with associated leukemia and one with Hodgkin disease.