We report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11-S2; and dislocated hips. A literature search and use of a computer-assisted syndrome-identification program failed to uncover an identical case.

A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.

A case of spondylometepiphyseal dysplasia congenita, Strudwick type is presented. At birth, this condition cannot be distinguished from spondyloepiphyseal dysplasia congenita. Features in common include delayed ossification of the public bones and proximal femoral epiphyses, coxa vara, odontoid hypoplasia and lumbar lordosis. The distinguishing radiologic feature of this condition is the striking irregularity of long bone metaphyses which develops during infancy.

No abstract

A promising new therapeutic regimen for treating childhood acute lymphocytic leukemia has resulted in 39 of 42 long-term remissions. Fifty-six children (1 to 13 years of age) were entered consecutively in this study of multiple combination chemotherapy for newly diagnosed acute lymphocytic leukemia. Of the 56 children, 1 parent refused treatment, 6 died during the period of remission induction, 4 are still receiving remission induction chemotherapy, and 45 attained complete remission. Of these 45 patients, 3 had therapy refused by their parents, 2 underwent hematologic relapse at 8 and 9 months during maintenance chemotherapy, 1 died in complete remsision, and 39 are in continuous complete remission for 1 to 23 months (median of 6 months). This regimen of combined chemotherapy appears to be very effective (2 relapses among 39 patients over a 27-month period) and tolerated with a good margin of safety reflected by absence of prohibitive toxicity. There was one death from Escherichia coli sepsis during a period of continuous complete remission (13 months).