Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): Report of a transitional type

Pediatric Radiology

Volumn 38, Issue 9, 2008, Pages 994-998

  Hayes, Laura L ^a   Simoneaux, Stephen F ^a   Palasis, Susan ^a   Niyazov, Dmitriy M ^b  

^a Children's Healthcare of Atlanta at Scottish Rite ^*  (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cerebellar malformations; Forked metacarpals; Hypoplastic epiglottis; Polydactyly

Indexed keywords

5' UNTRANSLATED REGION; ANAMNESIS; ARTICLE; BRACHYDACTYLY; BRAIN MALFORMATION; BRONCHOSCOPY; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME ANALYSIS; CLEFT LIP; CLINODACTYLY; DYSOSTOSIS; EAR MALFORMATION; ECHOGRAPHY; EXTUBATION; FAMILY HISTORY; FEMALE; FLUOROSCOPY; FOOT RADIOGRAPHY; GENE DELETION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GROWTH RETARDATION; HAND RADIOGRAPHY; HEAD CIRCUMFERENCE; HEIGHT; HIGH ARCHED PALATE; HUMAN; HYPERTELORISM; INFANT; INTRON; LARYNX DISORDER; MICROGNATHIA; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; ORAL FACIAL DIGITAL SYNDROME TYPE VI; PHYSICAL EXAMINATION; POLYDACTYLY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY TRACT MALFORMATION; SYNDACTYLY; TRACHEA DISEASE; VARADI PAPP; WEIGHT;

FEMALE; HUMANS; INFANT, NEWBORN; LARYNX; MAGNETIC RESONANCE IMAGING; OROFACIODIGITAL SYNDROMES; TRACHEA;

EID: 48549095641     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-008-0877-y     Document Type: Article

References (9)

1. HV Toriello 1993 Oral-facial-digital syndromes, 1992 Clin Dysmorphol 2 95 105
2. F Gurrieri B Franco H Toriello 2007 Oral-facial-digital syndromes: review and diagnostic guidelines Am J Med Genet A 143 3314 3323
3. Online Mendelian Inheritance in Man, OMIM (2008) McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), January 2008. Available via http://www.ncbi.nlm.nih.gov/omim/ Accessed 27 Mar 2008
4. M Munke DM McDonald A Cronister 1990 Oral-facial-digital syndrome type VI (Varadi syndrome): further clinical delineation Am J Med Genet 35 360 369
5. JG Gleeson LC Keeler MA Parisi 2004 Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes Am J Med Genet A 125 125 134
6. E Steichen-Gersdorf I Gassner B Covi 1994 Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea Clin Dysmorphol 3 245 250
7. Y Hsieh J Hou 1999 Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect Am J Med Genet 86 278 281
8. BJ Doss S Jolly F Qureshi 1998 Neuropathologic findings in a case of OFDS type VI (Varadi syndrome) Am J Med Genet 77 38 42
9. VV Chizhikov J Davenport Q Zhang 2007 Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool J Neurosci 27 9780 9789