Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 335-342

  Hisama, Fuki M ^a   Reyes Mugica, Miguel ^a   Wargowski, David S ^b   Thompson, Kate J ^c   Mahoney, Maurice J ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^c UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Absent nipples; Fryns syndrome; Multiple congenital anomalies; Pallister Hall syndrome; Renal tubular dysgenesis

Indexed keywords

ACCESSORY SPLEEN; AGENESIS; ANUS ATRESIA; ARTICLE; CASE REPORT; CHOANA ATRESIA; CLINICAL FEATURE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; KIDNEY TUBULE; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; NEWBORN MORTALITY; NIPPLE; PALLISTER HALL SYNDROME; PRIORITY JOURNAL; THYMUS;

EID: 0031772357     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19981204)80:4<335::aid-ajmg7>3.0.co;2-%23     Document Type: Article

References (26)

1. Allanson JE, Hunter AGW, Mettler GS, Jimenez C (1992): Renal tubular dysgenesis: A not uncommon autosomal recessive syndrome: A review. Am J Med Genet 43:811-814.
2. Allanson JE, Pantzar JT, McLeod PM (1983): Possible new autosomal recessive syndrome with unusual renal histopathological changes. Am J Med Genet 16:57-62.
3. Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA, Keena B, Pantzar T, Friedman JM, Hall JG (1989): Congenital diaphragmatic hernia, coarse faciès and acral hypoplasia: Fryns syndrome. Am J Med Genet 32:93-99.
4. Biesecker LG, Abbott M, Alien J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A (1996): Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet 65:76-81.
5. Brachmann W (1916): Ein fall von symmetrischer Monodaktylie durch Ulnadefekt mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung). Jahrb Kinderkeilk 84:224-235.
6. Carmi R, Binshtock M, Abeliovich D, Bar-Ziv J (1983): The branchio-otorenal (BOR) syndrome: Report of bilateral renal agenesis in three sibs. Am J Med Genet 14:625-627.
7. Chityat D, Hodgkinson KA, Chen M-F, Haber GD, Nakishima S, Sando I (1992): Branchio-oto-renal syndrome: Further delineation of an underdiagnosed syndrome. Am J Med Genet 43:970-975.
8. Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979): The spectrum of DiGeorge syndrome. J Pediatr 94:883-890.
9. Cremers CW, Fikkers-Van Noord M (1980): The earpits-deafness syndrome: Clinical and genetic aspects. Int J Pediatr Otorhinolaryngol 2:309-322.
10. de Lange C (1922): Sur un type nouveau de dégénération (typus Amstelodamensis). Arch Med Enfant 36:713-719.
11. Fraser FC, Jequier S, Chen MF (1989): Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, haxadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus. Am J Med Genet 34:401-405.
12. Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H (1979): A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50:65-70.
13. Hall JG, Pallistcr SK, darren SK, Beckwith JB, Wigglesworth FW, Fräser FC, Benke PJ, Reed SD (1980): Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-A new syndrome? Part I: Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47-74.
14. Heimler A, Lieber E (1986): Branchio-oto-renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25:15-27.
15. Kumar S, Marres HAM, Cremers C, Kimberling WJ (1998): Autosomal dominant branchio-otic (BO) syndrome is not allelic to the branchiooto-renal gene at 8ql3. Am J Med Genet 76:395-401.
16. London Dysmorphology Database 2.0 (1996): Winter R, Baraitser M (eds). Oxford Medical Databases, Oxford: Oxford University Press.
17. Melnick M, Bixler D, Nance WE, Silk K, Yune H (1976): Familial branchiooto-renal dysplasia: A new addition to the branchial arch syndromes. Clin Genet 9:25-34.
18. Novak RW, Robinson HB (1994): Coincident DiGeorge anomaly and renal agensis and its relation to maternal diabetes. Am J Med Genet 50:311-312.
19. POSSUM (1996): Pictures of standard syndromes and undiagnosed malformations, version 4.51. Bankier A, Rose CM, Chemke J, Kozlowski K, Rogers M, Sillence DO. Computer Power Pty, Ltd. and the Murdoch Institute, Melbourne, Australia.
20. Robinson HB (1975): DiGeorge's or the I1I-IV pharyngeal pouch syndrome: Pathology and a theory of pathogenesis. Perspect Pediatr Pathol 2:173-206.
21. Rüdiger RA, Haase W, Passarge E (1970): Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 120:160-163.
22. Russo R, D'Armiento M, Vacchione R (1991): Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type. Am J Med Genet 39:482-485.
23. Swindford AE, Bernstein J, Toriello H, Higgins JV (1989): Renal tubular dysgenesis: Delayed onset of oligohydramnios. Am J Med Genet 32: 231-245.
24. Van Hove JLK, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, lafolla AK, Kahler SG (1995): Fryns syndrome survivors and neurologic outcome. Am J Med Genet 59:334-340.
25. Vincent C, Kaletzi V, Abdelhak S, Chaib H, Compein S, Helias J, Vanceelo FM, Petit C (1997): BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet 5:242-246.
26. Wilson DI, Burn J, Scambler P, Goodship J (1993): DiGeorge syndrome: Part of CATCH 22. J Med Genet 30:852-856.