comprises mental retardation, craniosynostosis, congenital microcephaly, growth failure, glaucoma, congenital heart anomalies, and gastrointestinal defects, e.g., diaphragmatic hernia. It was first described by Lowry and Maclean [1977] in a female patient with Crouzon-like facial anomalies and other congenital anomalies. The patient died at age 29 months and at autopsy was found to have craniosynostosis. Herein, we report a Bedouin family with members in two successive generations presenting with the Lowry-Maclean syndrome.
The proposita was born at 39 weeks of gestation after an uneventful pregnancy to nonconsanguineous Bedouin parents. The 25-year-old father had bilateral congenital glaucoma which was managed surgically but did not prevent loss of vision. A paternal aunt was mentioned to have the same eye problem (congenital glaucoma) like the father. The proposita's birth weight was 2,750 g (3rd centile), length 47 cm (10th-25th centile), and head circumference (OFC) 30 cm (<3rd centile). At birth, she was noted to have minor anomalies and congenital heart disease. At age 6 months, she was admitted because of cyanosis and heart failure. At that time, her length was 56.5 cm, weight 5,500 g, and OFC 35 cm (all below the 3rd centile for age and sex). She was found to have a high forehead, a narrow anterior fontanelle, a prominent coronal suture, flat supraorbital ridges, down-slanting palpebral fissures, proptosis, macrocornea, blue sclerae, depressed nasal bridge, short nose, maxillary hypoplasia, high vaulted palate, down-turned mouth, micrognathia, and a right simian crease. Ophthalmological examination showed bilateral glaucoma with increased intraocular pressure and corneal opacities. Skeletal survey demonstrated osteopenic bones. Head/abdominal ultrasound findings were unremarkable. Echocardiography showed congenital heart defects with a ventricular sep-