High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: Report of a case and further evidence for autosomal recessive inheritance

Acta Ophthalmologica Scandinavica

Volumn 78, Issue 2, 2000, Pages 221-222

  Avunduk, Avni Murat ^a   Aslan, Yakup ^a   Kapicioǧlu, Zerrin ^a   Elmas, Rüştü ^a  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

Exomphalos; Hypertelorism; Myopia; Sensorineural deafness.

Indexed keywords

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; DONNAI BARROW SYNDROME; EVOKED CORTICAL RESPONSE; HIGH MYOPIA; HUMAN; HYPERTELORISM; INFANT; IRIS COLOBOMA; MALE; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; UMBILICAL HERNIA;

ABNORMALITIES, MULTIPLE; COLOBOMA; CONSANGUINITY; CORPUS CALLOSUM; EXOPHTHALMOS; HEARING LOSS, SENSORINEURAL; HUMANS; HYPERTELORISM; INFANT; IRIS; MALE; MYOPIA; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0034075198     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.2000.078002221.x     Document Type: Article

References (6)

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