Oculo-auriculo-vertebral spectrum in Klinefelter syndrome.

We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented. The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.

[Solitary maxillary central incisor with growth hormone deficiency (author's transl)]. / Incisive supérieure unique et déficit en STH.

A prepubertal girl with growth hormone deficiency and a solitary maxillary central incisor is described. The association of these two abnormalities can be explained by a single embryological defect.