Lowry-Maclean Syndrome

Lowry and MacLean (1977) reported the case of a 29-month-old Caucasian girl with mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure. Cohen (1978) dubbed this cleft syndrome as Lowry-MacLean syndrome and classified it as a previously unreported multiple congenital anomalies-mental retardation (MCA/MR) syndrome. Kousseff and Ranells (1994) described an African American boy with multiple congenital anomalies and developmental delay from birth. Meconium staining, unusual facial appearance, and multiple congenital anomalies were noted at birth. Like the patient reported by Lowry and MacLean (1977), the second patient had intrauterine growth retardation, microcephaly, craniosynostosis, glaucoma, cleft palate, delayed dentition, preauricular tag/pit, beaked nose, congenital heart defect, and developmental delay. Chromosomes were normal. The genetic basis of this seemingly distinctive syndrome is unclear. It may be due to an autosomal dominant mutation.

Al-Torki et al. (1997) described the disorder in a father and daughter in a Kuwaiti Bedouin family. The proposita was born at 39 weeks' gestation after an uneventful pregnancy to nonconsanguineous parents. The 25-year-old father had bilateral congenital glaucoma that led to blindness despite surgery. A paternal aunt also had congenital glaucoma. The proposita had congenital heart disease (via ventricular septal defect and coarctation of the aorta). She also had congenital microcephaly, developmental delay, growth failure, clinically evident craniosynostosis, and Crouzon-like facial appearance. She also had osteoporosis.