Diaphragmatic hernia in the coffin-siris syndrome

Genetic Counseling

Volumn 9, Issue 1, 1998, Pages 45-50

  Delvaux, V ^a   Moerman, Ph ^a   Fryns, J P ^b  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Cerebellar hypoplasia; Coffin siris syndrome; Hernia diaphragmatica; Nail dysplasia

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; CEREBELLUM HYPOPLASIA; COFFIN SIRIS SYNDROME; CONGENITAL DIAPHRAGM HERNIA; DIFFERENTIAL DIAGNOSIS; FACE MALFORMATION; FEMALE; FETUS; FETUS MALFORMATION; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; INDUCED ABORTION; LOW SET EAR; NAIL HYPOPLASIA; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; ABORTION, EUGENIC; CEREBELLUM; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL DEATH; HEART DEFECTS, CONGENITAL; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; NAILS, MALFORMED;

EID: 0031911789     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. BARBER N. and SAY B.: Coffin-Siris syndrome. Am. J. Dis. Child., 1978, 132: 1044.
2. BODURTHA J., KESSEL A., BERMAN W. and HARTENBER G.M.: Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome. J. Pedriatr., 1986, 109, 1015-1017.
3. BRYLEWSKI J.: A typical case of Cornelia de Lange syndrome. Br. Med. J., 1978, 25, 756.
4. CAREY J.C. and HALL B.D.: The Coffin-Siris syndrome: five new cases including two siblings. Am. J. Dis. Child., 1978, 732, 667-671.
5. COFFIN G.S. and SIRIS E.: Mental retardation with absent fifth fingernail and terminal phalanx. Am. J. Dis. Child., 1970, 119, 433-439.
6. CUNNIFF CHR., CURRY C., CAREY J., GRAHAM J.M., WILLIAMS C.A., STENGEL-RUTKOWSKI S., LÜTTGEN S. and MEINECKE P.: Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am. J. Med Genet., 1993, 47, 1018-1021.
7. DEBASSIO W.A., KEMPER T.L. and KNOEFEL J.E.: Coffin-Siris syndrome: neuropathological findings. Arch. Neur., 1985, 42, 350-353.
8. DE JONG G. and NELSON M.M.: Choanal atresia in two unrelated patients with the Coffin-Siris syndrome. Clin. Genet., 1992, 42, 320-322.
9. FRANCESCHINI P., SILENGO M.C., BIANCO R., BIAGIOLI M., GUALA A. and LOPEZ BELL G.: The Coffin-Siris syndrome in two siblings. Pedriatr. Radiol., 1986, 16, 330-333.
10. FRYNS J.P., MOERMAN PH., GODDEERIS P., BOSSUYT C. and VAN DEN BERGHE H.: A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limbs deformities. Hum. Genet., 1979, 50, 65-70.
11. FRYNS J.P., CASAER P. and VAN DEN BERGHE H.: Partial duplication of the short arm of chromosome 9 (p13 →p22) in a child with typical 9p trisomy phenotype. Hum. Genet., 1979, 46, 231-235.
12. FRYNS J.P.: On the nosology of the Cornelia de Lange and Coffin-Siris syndromes. Clin. Genet., 1986, 29, 263-264 (letter).
13. GELLIS S.S. and FEINGOLD M.: Coffin-Siris syndrome. AM. J. Dis. Child., 1978, 132, 1213-1214.
14. HASPESLAGH M., FRYNS J.P. and VAN DEN BERGHE H.: The Coffin-Siris syndrome: report of a family and further delineation. Clin. Genet., 1984, 26, 374-378.
15. HUNTER A., PARTINGTON M. and EVANS J.: The Coffin-Lowry syndrome. Experience from four centers. Clin. Genet., 1982, 21, 321-335.
16. IMAIZUMI K. and NAKAMURA M. et al.: Hypoglycemia in Coffin-Siris syndrome. Am. J. Med. Genetics, 1995, 59(1), 49-50.
17. LEVY P. and BARAITSER M.: Coffin-Siris syndrome. J. Med. Genet., 1991, 28, 338-341.
18. LUCAYA J., GARCIA CONESA J.A., BOSCH BANYERAS J.M. and PONS PERADEJORDI G.: The Coffin-Siris syndrome: a report of four cases and review of the literature. Pedriat. Radiol., 1981, 11, 35-38.
19. MEINECKE P., ENGELBRECHT R. and SCHAEFER E.: Coffin-Siris Syndrom bei einem 5 jährigen Mädchen. Monaisschr. Kinderheilkd., 1986, 134, 692-695.
20. MOERMAN PH., FRYNS J.P., VANDEN-BERGHE K., DEVLIEGER H. and LAUWERYNS J.: The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this Multiple Congenital Anomaly (MCA) syndrome. Am. J. Med. Genet., 1988, 31, 805-814.
21. QAZI Q.H., HECKMAN L.S. and MARKOUIZOS D., VERMA R.S.: The Coffin-Siris syndrome. J. Med. Genet., 1990, 27, 333-336.
22. RABE P., HAVERKAMP F., EMONS D. et al.: Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome. Am. J. Med. Genet., 1991, 41, 350-354.
23. ROGERS L., PATTISAPU J., SMITH R.R. and PARKER P.: Medulloblastoma in association with the Coffin-Siris syndrome. Child's Nerv. Syst., 1988, 4, 41-44.
24. SCHINZEL A.: The Coffin-Siris syndrome. Acta Paediatr. Scand., 1979, 68, 449-452.
25. SCHINZEL A.: Trisomy 9p, a chromosome aberration with distinct radiologic findings. Pediatr. Radiol., 1979, 130, 125-133.
26. SENIOR B.: Impaired growth and onychodysplasia. Short children with tiny toenails. Am. J. Dis. Child., 1971, 122, 7-9.
27. STRATTON R.F., YOUNG R.S., HEIMAN H.S. and CARTER J.M.: Fryns syndrome. Am. J. Med. Genet., 1993, 45, 562-564.
28. SWILLEN A., GLORIEUX N., PEETERS M. and FRYNS J.P.: The Coffin-Siris syndrome: data on mental development, language, behavior and social skills in 12 children. Clin. Genet., 1995, 48, 177-182.
29. TUNNESSEN W., MC MILLAN J. and LEVIN M.B.: The Coffin-Siris syndrome. Am. J. Dis. Child., 1978, 132, 393-395.
30. UEDA K., SAITO A., NAKANO H. and IINUMA K.: The Coffin-Siris syndrome; a case report. Helv. Paediat. Acta, 1980, 35, 385-390.
31. VAN HEYST A.F.J., KOLLEE L.A.A. and BRUNNER H.G.: Het syndroom van Coffin-Siris. Beschrijving van vier patiënten en een literatuuroverzicht. Tijdschr Kindergeneeskd., 1993, 61, 28-33.
32. VERLOES A., BONNEAU D., GUIDI O., BERTHIER M., ORIOT D., VAN MALDERGEM L. and KOULISCHER L.: Brachymorphism-Onychodysplasia-Dysphalangism syndrome. J. Med. Genet., 1993, 30, 158-161.
33. WEISWASSER W.H., HALL B.D., DELAVAN G.W. et al.: Coffin-Siris syndrome: two new cases. Am. J. Dis. Child., 1973, 125, 838-840.