Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?

American Journal of Medical Genetics

Volumn 47, Issue 5, 1993, Pages 679-682

  Donnai, D ^a   Barrow, M ^a  

^a St Mary's University Hospital   (United Kingdom)

Author keywords

absent corpus callosum; autosomal recessive inheritance; diaphragmatic hernia; exomphalos; iris coloboma; myopia; sensorineural deafness

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CORPUS CALLOSUM; DIAPHRAGM HERNIA; EXOPHTHALMOS; HUMAN; HYPERTELORISM; INHERITANCE; IRIS COLOBOMA; MALE; MYOPIA; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0027371034     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320470518     Document Type: Article

References (4)

1. De Hauwere RC, Leroy JG, Adriaenssens K, Van Heule R (1973): Iris dysplasia, orbital hypertelorism and psychomotor retardation: A dominantly inherited developmental syndrome. J Pediatr 82: 679–681.
2. Fryns JP, Moerman F, Goddeeris P (1979): A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50: 65–70.
3. Holmes LB, Schepens CL (1972): Syndrome of ocular and facial anomalies, telecanthus, and deafness. J Pediatr 81: 552–555.
4. Winterpacht A, Hilbert M, Schwartz U, Mundlos S, Spranger J, Zabel BU (1993): Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nature Genet 3: 323–326.