Corneal dermoids and short stature in brother and sister—A new syndrome?

Guízar-Vázquez, J; Luengas‐Muñoz, F. J.; Antillón, Federico; Opitz, John M.

doi:10.1002/ajmg.1320080214

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Cited by 7 publications

(1 citation statement)

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“…However, in the German Shepherd, Dachshund and St Bernard a recessive inheritance has been suggested 7 . 9 , 10 In humans, in a family, a recessive, X‐chromosome‐linked inheritance has been hypothesed 11 . Dermoids of the eye usually occur as a solitary problem; however, they have also been associated with other malformations.…”

Section: Introductionmentioning

confidence: 99%

A dermoid of the eye in a blue‐fronted Amazon parrot (Amazona aestiva)

Leber¹,

Bürge²

1999

Veterinary Ophthalmology

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Section: Introductionmentioning

confidence: 99%

A dermoid of the eye in a blue‐fronted Amazon parrot (Amazona aestiva)

Leber¹,

Bürge²

1999

Veterinary Ophthalmology

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Respiratory Epithelium in a Cystic Choristoma of the Limbus

et al. 1990

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Prenatal sonographic findings in Peters‐plus syndrome

Boog

Vaillant

Joubert

2005

Ultrasound in Obstet & Gyne

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Peters syndrome is a congenital disease resulting from deficient cleavage of the anterior chamber of the eye. Peters‐plus syndrome (PpS) is characterized by the typical ocular anomalies of Peters syndrome in association with impaired growth, mental retardation and other malformations. We report the first prenatal description of PpS in the 20‐week fetus of a consanguineous couple. Ultrasound examination revealed microphthalmia and hyperechogenicity of the anterior part of the eye with a central defect, micrognathia and long philtrum, short limbs with broad extremities and unilateral multicystic kidney. The pregnancy was terminated on parental request. Autopsy, including careful ocular examination, established the diagnosis of PpS. PpS has an autosomal‐recessive mode of inheritance. The ocular anomaly has been linked with mutations in genes PAX6, PITX2, PITX3 and CYP1B1, but the causal factor of PpS remains unknown. Copyright © 2005 ISUOG. Published by John Wiley & Sons, Ltd.

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Corneal dermoids and short stature in brother and sister—A new syndrome?

Abstract: We describe 2 sibs; brother and sister, with corneal dermoids and proportionately short stature. It is suggested that this is an autosomal recessive condition.

Cited by 7 publications

References 2 publications

A dermoid of the eye in a blue‐fronted Amazon parrot (Amazona aestiva)

A dermoid of the eye in a blue‐fronted Amazon parrot (Amazona aestiva)

Respiratory Epithelium in a Cystic Choristoma of the Limbus

Prenatal sonographic findings in Peters‐plus syndrome

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