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?

• Published in: Journal of medical genetics Vol. 36; no. 2; pp. 161 - 166
• Main Authors: Al-Gazali, L I, Sztriha, L, Punnose, J, Shather, W, Nork, M
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-02-1999; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: absent pituitary; Age; Biological and medical sciences; Blood Chemical Analysis; Brain - diagnostic imaging; Cerebellum - abnormalities; Child, Preschool; Complex syndromes; Cooperation; Defects; Diagnosis, Differential; Female; Genes; Growth hormones; Hormone Replacement Therapy; Humans; Infant; Magnetic Resonance Imaging; Male; Medical genetics; Medical sciences; Ophthalmoplegia - genetics; orofaciodigital syndrome VI; Orofaciodigital Syndromes - drug therapy; Orofaciodigital Syndromes - genetics; Pituitary gland; Pituitary Gland - abnormalities; Polydactyly - genetics; Radiography; Short Report; Studies; Tropical medicine; vermis dysgenesis; Endocrinopathy; Dysgenesia; Diseases of the osteoarticular system; Dysmorphic facies; Cerebellar disease; Disease of the hand; Polydactyly; Pituitary gland; Upper limb; Complex syndrome; Oculomotor syndrome; Child; Human; Orofaciodigital syndrome; Nervous system diseases; Agenesis; Stomatology; Family study; Dysostosis; Congenital disease; Differential diagnostic; Genetic disease; Case study; Vermis; Eye disease; Phenotype; Treatment; Malformation; Central nervous system disease; Varadi syndrome
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg.36.2.161

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.