Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis

Pfeiffer et al. (1987) described 2 sibs from healthy parents with this combination of manifestations. Curiously, no mention was made of the sex of the sibs. Stratton and Parsons (1989) described a sporadic case. In addition to craniosynostosis involving the sagittal suture, micrognathia with limited mouth opening, tracheobronchial anomalies, congenital heart defects, microphallus, cryptorchidism, and growth and mental retardation were features.

Williamson-Kruse and Biesecker (1995) reported a fourth case. Although most of the features were similar to those described in the earlier patient, a heart defect was missing, suggesting that congenital heart defect is not an obligatory feature of the cardiocranial syndrome! The patient was male; one of the original sibs of Pfeiffer et al. (1987) was female.

Autosomal recessive inheritance was supported by the finding of Pfeiffer cardiocranial syndrome in a brother and sister by Digilio et al. (1997). Craniosynostosis was present in only 1 of the sibs, suggesting intrafamilial variability. Further, the clinical spectrum of the disorder was expanded by inclusion of renal, joint, and palpebral abnormalities.