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Case Reports
. 1990 Mar;35(3):360-9.
doi: 10.1002/ajmg.1320350310.

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

Affiliations
Case Reports

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

M Münke et al. Am J Med Genet. 1990 Mar.

Abstract (V体育官网)

Cerebellar anomalies are consistent findings in patients with the oral-facial-digital syndrome type VI (Váradi syndrome) in addition to variable facial and oral changes, and polysyndactyly of hands and feet. We report 3 unrelated patients with this entity who have a hypoplastic cerebellar vermis shown by magnetic resonance imaging (MRI), as well as clinical signs of cerebellar defect. Polydactyly of the hands is characterized by a central Y-shaped metacarpal VSports手机版. Clinically recurrent episodes of tachypnea and hyperpnea are remarkable. Postnatal growth is delayed with short stature in all 3 patients possibly due to growth hormone deficiency in one of them. In contrast to reported patients who are all severely mentally retarded, one of our patients is of normal intelligence. Type VI oral-facial-digital syndrome is an autosomal-recessive trait and may be detected prenatally. .

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Comment in

  • OFDI syndrome.
    Frézal J. Frézal J. Am J Med Genet. 1990 Nov;37(3):439-40. doi: 10.1002/ajmg.1320370334. Am J Med Genet. 1990. PMID: 2260583 No abstract available.

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