Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder

Journal Article · Fri Jan 31 00:00:00 EST 1997 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19970131)68:3<350::AID-AJMG19>3.0.CO;2-S· OSTI ID:518274

Chudley, A E; McCullough, C; McCullough, D W ^[1]

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1. Univ. of Manitoba, Winnipeg (Canada)

We identified a Canadian-Mennonite family in which a brother and sister have hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. This appears to be a unique combination of anomalies and, to our knowledge, has not been reported previously. Both parents and a brother are phenotypically normal. The parents are second cousins. Thus, on the basis of consanguinity, affected sibs of both sexes, and in the absence of evidence for intrauterine infections or other adverse perinatal events, this syndrome is likely inherited in an autosomal recessive fashion. 37 refs., 5 figs.

• OSTI ID: 518274
• Journal Information: American Journal of Medical Genetics, Vol. 68, Issue 3; Other Information: PBD: 31 Jan 1997
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
SENSE ORGANS DISEASES
HEREDITARY DISEASES
PHENOTYPE
CONGENITAL MALFORMATIONS
HUMAN CHROMOSOME 2
GENETIC MAPPING
GENES
RECESSIVE MUTATIONS
GENETICS