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  • Print publication year: 2005
  • Online publication date: August 2009

5 - Nephro-urologic, gastrointestinal, and ophthalmic findings


Three systems frequently involved in velo-cardio-facial syndrome (VCFS) are the nephro-urologic and the gastrointestinal systems and the eyes. This chapter discusses the pathogenesis and clinical aspects of these anomalies. It then briefly deals with some other nephro-urological manifestations of VCFS, enuresis, and nephrocalcinosis. The prenatal presentation of uropathies is a special situation. Most cases with a conotruncal heart defect that have been detected antenatally are isolated, but it may be of interest to detect those cases with VCFS. Normal swallowing is usually divided into oral-preparatory, oral, pharyngeal, and esophageal phases. The chapter describes normal feeding and swallowing development as it relates to the feeding pathology seen in infants and children with VCFS. Despite the frequent finding of various ophthalmological manifestations in VCFS, serious ocular involvement is uncommon. It is clear that further research is needed to evaluate the frequency of visual impairment in patients with the VCFS.
Abbott, G. D., Taylor, B. & Maling, T. M. J. (1981) Incidence of vesicoureteral reflux in infants with sterile urine. Br. J. Urol., 53, 73.
Abel, H. P. & O'Leary, D. J. (1997) Optometric findings in velocardiofacial syndrome. Optom. Vis. Sci., 74, 1007–10.
Ardran, G. & Kemp, F. (1967) The mechanism of the larynx. II. The epiglottis and closure of the larynx. Br. J. Radiol., 40, 372–89.
Arvedson, J. & Lefton-Greif, M. (1998) Anatomy, physiology and development of deglutition. In Arvedson, J. & Lefton-Greif, M., eds., Pediatric Videofluoroscopic Swallow StudiesTX: Communication Skill Builders, San Antonio, pp. 13–37.
Baldini, A. (2002) DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum. Mol. Genet., 11, 2363–9.
Bearden, C. E., Woodin, M. F., Wang, P. al. (1999) The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. Neuropsychol. Dev. Cogn. Sect. C. Child. Neuropsychol., 5, 230–41.
Beemer, F. A., Nef, J. J. E. M., Delleman, J. W., Bleeker-Wagemakers, M. D. & Shprintzen, R. J. (1986) Letter to the Editor: Additional eye findings in a case of velo-cardio-facial syndrome. Am. J. Med. Genet., 24, 541–2.
Boudjemline, Y., Fermont, L., Bidois, J., Villain, E., Sidi, D. & Bonnet, D. (2002) Can we predict 22q11 status of fetuses with tetralogy of Fallot? Prenat. Diagn., 22, 231–4.
Clark, J. (1993) Anatomy and physiology of the esophagus. In Wyllie, R. & Hyams, J., eds., Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, ManagementPhiladelphia, WB Saunders. pp. 311–17.
Code, J. & Schlegel, J. (1986) Motor action of the esophagus and its sphincters. In Code, C., ed., Handbook of Physiology: Alimentary CanalWashington, DC: American Physiology Society, 1821–39.
Crewther, S. G., Kiely, P. M., Kok, L. L. & Crewter, D. P. (1998) Anomalies of genetic development as predictors of oculo-cardio-facial syndrome. Optom. Vis. Sci., 75, 749–57.
Davenport, S. (1988) Multiple congenital anomalies: an approach to management. Pediatrician, 15, 37–44.
Devriendt, K., Swillen, A., Proesmans, W., Gewillig, M. & Fryns, J. P. (1996) Renal and urological tract malformations caused by a 22q11 deletion. J. Med. Genet., 33, 349.
Devriendt, K., Moerman, Ph., Schoubroeck, D., Vandenberghe, K. & Fryns, J. P. (1997) Chromosome 22q11 deletion presenting as the Potter sequence. J. Med. Genet., 34, 423–5.
Devriendt, K., Swillen, A. & Fryns, J. P. (1998) Deletion in chromosome 22q11 in a child with CHARGE association. Clin. Genet., 53, 408–10.
Digilio, M. C., Marino, B., Formigari, R. & Giannotti, A. (1995) Maternal diabetes causing DiGeorge anomaly and renal agenesis. Am. J. Med. Genet., 55, 513–14.
Digilio, M. C., Giannotti, A., Marino, B., Guadagni, A. M., Orzalesi, M. & Dallapiccola, B. (1997) Radial aplasia and chromosome 22q11 deletion. J. Med. Genet., 34, 942–4.
Digilio, M. C., Marino, B., Bagolan, P., Giannotti, A. & Dallapiccola, B. (1999) Microdeletion 22q11 and oesophageal atresia. J. Med. Genet., 36, 137–9.
Digilio, M. C., Marino, B., Cappa, M., Cambiaso, P., Giannotti, A. & Dallapiccola, B. (2001) Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome). Genet. Med., 3, 30–3.
Dodds, W., Stewart, E. & Logemann, J. (1990) Physiology and radiology of the normal oral and pharyngeal phases of swallowing. Am. J. Roentgenol., 154, 953–63.
Donner, M., Bosma, J. & Robertson, D. (1985) Anatomy and physiology of the pharynx. Gastroint. Radiol., 10, 196–212.
Eckberg, O. & Hilderfors, H. (1985) Defective closure of the laryngeal vestibule. Am. J. Radiol., 145, 1159–64.
Etchevers, H. C., Vincent, C., Douarin, N. M. & Couly, G. F. (2001) The cephalic neural crest provides pericytes and smooth muscle cells to all blood vessels of the face and forebrain. Development, 128, 1059–68.
Fitch, N. (1983) Letter to the Editor: Velo-cardio-facial syndrome and eye abnormality. Am. J. Med. Genet., 15, 669.
Jacob, P., Kahrilas, P., Logemann, J., Shah, V. & Ha, T. (1989) Upper esophageal sphincter opening and modulation during swallowing. Gastroenterology, 97, 1469–78.
Kahrilas, P. (1992) Pharyngeal clearance during swallowing: a combined manometric and videofluoroscopic study. Gastroenterology, 103, 128–36.
Kahrilas, P., Lin, S., Logemann, J., Ergun, G. & Facchini, F. (1993) Deglutitive tongue action: volume accommodation and bolus propulsion. Gastroenterology, 104, 152–63.
Goodship, J., Robson, S. C., Sturgiss, S., Cross, I. E. & Wright, C. (1997) Renal abnormalities on obstetric ultrasound as a presentation of DiGeorge syndrome. Prenat. Diagn., 17, 867–70.
Gusmano, R. & Perfuma, F. (1993) Worldwide demographic aspects of chronic renal failure in children. Kidney Int. 43 (Suppl. 41), S31–5.
Kerstjens-Frederikse, W. S., Hofstra, R. M., Essen, A. J., Meijers, J. H. & Buys, C. H. (1999) A Hirschsprung disease locus at 22q11?J. Med. Genet., 36, 221–4.
Kok, L. L., Crewther, S. G., Crewther, D. P. & Klistorner, A. (1996) Visual function in velocardiofacial syndrome. Aust. N.Z. J. Ophthalmol., 24, 53–5.
Kramer, H., Majewski, F., Trampisch, H., Rammos, S. & Bourgeois, M. (1987) Malformation patterns in children with congenital heart disease. Am. J. Dis. Child., 141, 789–95.
Lipson, A. H., Yuille, D., Angel, M., Thompson, P. G., Vandervoord, J. G. & Beckenham, E. J. (1991) Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J. Med. Genet., 28, 596–604.
Logemann, J. (1983) Manual for the Videofluorographic Study of Swallowing. Austin, TX: Pro Ed.
Logemann, J., Kahrilas, P., Cheng, al. (1992) Closure mechanisms of laryngeal vestibule during swallow. Am. J. Physiol., 262, G338–44.
Mansour, A. M., Goldberg, R. B., Wang, F. M. & Shprintzen, R. J. (1987) Ocular findings in the velo-cardio-facial syndrome. J. Pediatr. Ophthalmol. Strabismus., 24, 263–6.
McDonald-McGinn, D. M., Kirschner, R., Goldmuntz, E., et al. (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet. Couns., 10, 11–24.
Mitnick, R. J., Bello, J. A. & Shprintzen, J. (1994). Brain anomalies in velo-cardio-facial syndrome. Am. J. Med. Genet., 54, 100–6.
Moerman, Ph., Fryns, J. P., Sastrowijoto, Sh., Vandenberghe, K. & Lauweryns, J. M. (1994) Hereditary renal adysplasia: new observations and hypotheses. Ped. Pathol., 14, 405–10.
Motzin, B., Marion, R., Goldberg, R., Shprintzen, R. & Saenger, P. (1993) Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J. Pediatr., 123, 406–10.
Naylor, A. & Wester, R. (1987) Providing professional lactation management consultation. Clin. Perinatol., 14, 33–8
Newman, L., Cleveland, R., Blickman, J., Hellman, R. & Jaramillo, D. (1991). Videofluoroscopic analysis of the infant swallow, Invest. Radiol., 26, 870–3.
Novak, R. W. & Robinson, H. B. (1994) Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes. Am. J. Med. Genet., 50 (4), 311–12.
Patterson, L. T. & Dressler, G. R. (1994) The regulation of kidney development: new insights from an old model. Curr. Opin. Genet. Develop., 4, 696–702.
Pittman, J. & Cohen, P. (1964) The pathogenesis of cardiac cachexia. N. Engl. J. Med., 271, 403–8.
Reyes, B., Arnold, J. & Brooks, L. (1994) Congenital absence of the epiglottis and its potential role in obstructive apnea. Int. J. Pediatr. Otorhinolaryngol., 30, 223–6.
Robson, W. L., Rogers, R. C. & Leung, A. K. C (1994) Renal agenesis, multicystic renal dysplasia, and uretero-pelvic junction obstruction – a common pathogenesis? Letter to the editor. Am. J. Med. Genet., 53, 302.
Robson, W. L., Leung, A. K. & Rogers, R. C. (1995) Unilateral renal agenesis. Adv. Pediatr., 42, 575–92.
Rommel, N., Vantrappen, G., Swillen, A., Devriendt, K., Feenstra, L. & Fryns, J. P. (1999) Retrospective analysis of feeding and speech disorders in 50 patients with VCFS. Genet. Couns., 10, 71–8.
Ryan, A. K., Goodship, J. A., Wilson, D. al. (1997). Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J. Med. Genet., 34, 798–804.
Schechter, G. (1990) Physiology of the mouth, pharynx and esophagus. In Bluestone, C., Stool, S. & Scheetz, M., eds., Pediatric Otolaryngology, Vol. 2 Philadelphia, PA: WB Saunders, pp. 816–22.
Shin, T., Maeyama, T. & Morikawa, I. (1988) Laryngeal reflex mechanisms during deglutition: observation of subglottal pressure and afferent discharge. Otolaryng. Head Neck, 99, 465–71.
Shivpuri, C., Martin, R., Carlo, W. & Fanaroff, A. (1983) Decreased ventilation in preterm infants during oral feeding. J. Pediatr., 103, 285–9.
Shprintzen, R. J., Goldberg, R. B., Lewin, M. al. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J., 15, 56–62.
Stalmans, I., Ng, Y. S., Rohan, al. (2002) Arteriolar and venular patterning in retinas of mice selectively expressing VEGF isoforms. J. Clin. Invest., 109, 327–36.
Stewart, T. L., Irons, M. B., Cowan, J. M. & Bianchi, D. W. (1999) Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology, 59, 20–2.
Swillen, A., Devriendt, K., Legius, al. (1997) Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J. Med. Genet., 34, 453–8.
Swillen, A., Vandeputte, L., Cracco, al. (1999) Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability? Neuropsychol. Dev. Cogn. Sect. C. Child. Neuropsychol., 5, 230–41.
Tanagho, E. A. (1976) Embryologic basis for lower ureteral anomalies: a hypothesis. Urology, 7, 451–64.
Torres, M., Gomez-Pardo, E., Dressler, G. R. & Gruss, P. (1995) Pax2 controls multiple steps of urogenital development. Development, 121, 4057–65.
Tuchman, D. (1994) Physiology of the swallowing apparatus. In Tuchman, D. & Walter, R., eds., Disorders of Feeding and Swallowing in Infants and Children: Pathophysiology, Diagnosis and TreatmentSan Diego: Singular Publishing Group.
Vanek, A. & Diamant, N. (1987) Responses of the human esophagus to paired swallows. Gastroenterology, 92, 643–50.
Esch, P., Groenen, M. A., Nesbit, al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome. Nature, 406, 419–22.
Weber, F., Woolridge, M. & Baum, J. (1986) An ultrasonographic study of the organization of sucking and swallowing by newborn infants. Dev. Med. Child Neurol., 28, 19–24.
Wilson, S., Thach, B., Brouillette, R. & Abu-Osba, Y. (1980) Upper airway patency in the human infant: influence of airway pressure and posture. J. Appl. Physiol., 48, 500–4.
Wilson, T. A., Blethen, S. L., Vallone, al. (1993) DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am. J. Med. Genet., 47, 1078–82.
Wolf, L. & Glass, R. (1992) Special diagnostic categories. In Wolf, L. & Glass, R., eds., Feeding and Swallowing in Infants and Children: Pathophysiology, Diagnosis and TreatmentSan Diego, CH: Singular Publishing Group, pp. 297–386.
Worthington, S., Colley, A., Fagan, K., Dai, K. & Lipson, A. H. (1997) Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome? J. Med. Genet., 34, 79–82.
Wyszynska, T., Chichocka, T., Wieteska-Kimczak, A., Jobs, K. & Januszewicz, P. (1982) A single pediatric center experience with 1025 children with hypertension. Acta Paediatr., 81, 244–6.
Yamanaka, S., Tanaka, Y., Kawataki, M., Ijiri, R., Imaizumi, K. & Kurahashi, H. (2000). Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant. Arch. Pathol. Lab. Med., 124, 880–2.