Short report
Absent pituitary gland and hypoplasia of the cerebellar vermis
associated with partial ophthalmoplegia and postaxial polydactyly: a
variant of orofaciodigital syndrome VI or a new syndrome?
L I Al-Gazalia, L Sztrihaa, J Punnoseb, W Shatherc, M Norkd
a Department of
Paediatrics, Faculty of Medicine and Health Sciences, PO Box 17666, UAE
University, Al-Ain, United Arab Emirates, b Department of Medicine, Al-Ain
Hospital, Al-Ain, United Arab Emirates, c Department of Neurosurgery, Fujairah Hospital,
Fujairah, United Arab Emirates, d Department
of Radiology, Tawam Hospital, Al-Ain, United Arab Emirates
Correspondence to: Dr Al-Gazali.
Received 26 March 1998;
Revised version accepted for publication 30 June 1998
We report two sibs with features overlapping those of
orofaciodigital syndrome type VI (Varadi syndrome). Both presented at birth with oculomotor abnormalities, dysmorphic facial features, and
dysgenesis of the cerebellar vermis. There were minimal oral manifestations (high arched palate) in both of them and one had postaxial polydactyly of both hands and one foot. In addition, there
was evidence of aplasia of the pituitary gland on MRI scan in both of
them with evidence of hypopituitarism. Both responded well to hormone
replacement therapy with improvement in their linear growth and mental
ability. These cases may represent a new autosomal recessive midline
defect syndrome with features overlapping OFDS VI. Alternatively the
features in these children could represent variability within OFDS VI.
Keywords: vermis dysgenesis; absent pituitary; orofaciodigital syndrome VI
© 1999 by J Med Genet
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