We report a patient with a unique combination of features, including microcephaly; mental
retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism;
alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge;
longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,
XY, der (15; 18)(q10; q10). The constellation of anomalies appears to represent a
contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene …