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-Gazali, L. Sztriha, J. Punnose, W. Shather, M. Nork

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)161-166
Number of pages6
JournalJournal of Medical Genetics
Volume36
Issue number2
Publication statusPublished - 1999

Fingerprint

Ophthalmoplegia
Pituitary Gland
Oral Manifestations
Hypopituitarism
Palate
Hormone Replacement Therapy
Hand
Magnetic Resonance Imaging
Parturition
Postaxial Polydactyly
Cerebellar Vermis
Orofaciodigital syndrome 6
Growth

Keywords

  • Absent pituitary
  • Orofaciodigital
  • Syndrome VI
  • Vermis dysgenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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abstract = "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.",
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T2 - A variant of orofaciodigital syndrome VI or a new syndrome?

AU - Al-Gazali, L. I.

AU - Sztriha, L.

AU - Punnose, J.

AU - Shather, W.

AU - Nork, M.

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