Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

American Journal of Medical Genetics

Volumn 68, Issue 4, 1997, Pages 441-444

  Gripp, Karen W ^a   Donnai, Dian ^b   Clericuzio, Carol L ^c   McDonald McGinn, Donna M ^a   Guttenberg, Marta ^a   Zackai, Elaine H ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b ST MARY S HOSPITAL   (United Kingdom)

^c UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

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

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINEOUS MARRIAGE; DIAPHRAGM HERNIA; DOWNWARD PALPEBRAL SLANT; FATALITY; HUMAN; HYPERTELORISM; INTESTINE MALROTATION; IRIS COLOBOMA; LUNG HYPOPLASIA; MALE; NEWBORN; OMPHALOCELE; PRIORITY JOURNAL; UMBILICAL HERNIA;

ADULT; COLOBOMA; CONSANGUINITY; CORPUS CALLOSUM; DIAPHRAGM; FACE; FEMALE; GENES, RECESSIVE; HERNIA, DIAPHRAGMATIC; HERNIA, UMBILICAL; HUMANS; HYPERTELORISM; INFANT, NEWBORN; MALE; PREGNANCY; SPLEEN; SYNDROME; UTERUS;

EID: 0031036379     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970211)68:4<441::AID-AJMG13>3.0.CO;2-S     Document Type: Article

References (2)

1. Donnai D, Barrow M (1993): Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder? Am J Med Genet 47:679-682.
2. Holmes LB, Schepens CL (1972): Syndrome of ocular and facial anomalies, telecanthus, and deafness. J Pediatr 81:552-555.