NEW CHROMOSOMAL AND MALFORMATION SYNDROMES

Richard Weleber, F. Hecht

Research output: Contribution to journalArticle

Abstract

That the ocular manifestations of de Lange syndrome can be helpful in differential diagnosis is not widely known. Most people are aware that bushy eyebrows, synophrys, antimongoloid slant, long lashes and telecanthus are present. However, most are unaware of the other ocular findings such as blepharophimosis, ptosis, mongoloid slant, esotropia, exotropia, nystagmus, microcornea, blue scleras, high myopia, pupillary anomalies, orbicularis oculi paresis and pallor of the optic disk. We have intensely studied a 20 yr old girl who presented with features of de Lange and bilateral posterior subcapsular cataracts. Chromosome studies were normal. As far as we can ascertain, posterior subcapsular cataracts have not been reported with de Lange patients. Patients with cataracts should receive additional biochemical investigation to attempt to detect enzyme deficiencies which might predispose to or cause cataract formation. Diagnosis of de Lange in adult patients is difficult. Heterogeneity of the syndrome probably exists. We strongly recommend the reporting in detail of atypical cases of de Lange syndrome.

Original languageEnglish (US)
Pages (from-to)346
Number of pages1
JournalBirth Defects: Original Article Series
Volume11
Issue number5
StatePublished - 1975

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Cataract
De Lange Syndrome
Eye Manifestations
Blepharophimosis
Pupil Disorders
Exotropia
Eyebrows
Pallor
Esotropia
Sclera
Optic Disk
Myopia
Paresis
Differential Diagnosis
Chromosomes
Enzymes

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics(clinical)

Cite this

NEW CHROMOSOMAL AND MALFORMATION SYNDROMES. / Weleber, Richard; Hecht, F.

In: Birth Defects: Original Article Series, Vol. 11, No. 5, 1975, p. 346.

Research output: Contribution to journalArticle

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