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2. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Neu RL; Kajii T; Gardner LI; Nagyfy SF Pediatrics; 1971 Mar; 47(3):610-2. PubMed ID: 5547878 [No Abstract] [Full Text] [Related]
3. The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. McMahon CJ; Reardon W Cardiol Young; 2006 Feb; 16(1):30-3. PubMed ID: 16454874 [TBL] [Abstract][Full Text] [Related]
4. Unusual facial appearance, microcephaly, growth and mental retardation, and syndactyly. A new syndrome? Filippi G Am J Med Genet; 1985 Dec; 22(4):821-4. PubMed ID: 4073130 [TBL] [Abstract][Full Text] [Related]
5. Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance. Partington M; Anderson D Am J Med Genet; 1994 Jan; 49(2):247-50. PubMed ID: 7509568 [TBL] [Abstract][Full Text] [Related]
6. The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients. Hershkovitz E; Shalitin S; Levy J; Leiberman E; Weinshtock A; Varsano I; Gorodischer R Isr J Med Sci; 1995 May; 31(5):293-7. PubMed ID: 7538982 [TBL] [Abstract][Full Text] [Related]
7. Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome. Cuturilo G; Jovanovic I; Vukomanovic G; Djukic M; Stefanovic I; Atanskovic-Markovic M Birth Defects Res A Clin Mol Teratol; 2008 Mar; 82(3):166-8. PubMed ID: 18232021 [TBL] [Abstract][Full Text] [Related]
9. [Case of Smith-Lemli-Opitz syndrome with atrial heart septal defect]. Nishio M; Murata M; Kusakawa S Nihon Shonika Gakkai Zasshi; 1970 Jul; 74(7):675-81. PubMed ID: 5466403 [No Abstract] [Full Text] [Related]
10. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Feingold M; Hall BD; Lacassie Y; Martínez-Frías ML Am J Med Genet; 1997 Mar; 69(3):245-9. PubMed ID: 9096752 [TBL] [Abstract][Full Text] [Related]
11. Congenital heart defects in Aarskog syndrome. Fernandez I; Tsukahara M; Mito H; Yoshii H; Uchida M; Matsuo K; Kajii T Am J Med Genet; 1994 May; 50(4):318-22. PubMed ID: 8209909 [TBL] [Abstract][Full Text] [Related]
12. Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? Richieri-Costa A; Colletto GM; Otto PA Am J Med Genet; 1985 Aug; 21(4):637-42. PubMed ID: 4025394 [TBL] [Abstract][Full Text] [Related]
13. [Noonan's syndrome. Genetic and cardiological study of 2 cases]. Saint-Rome G; Davignon A; Kratz C Union Med Can; 1970 Sep; 99(9):1602-12. PubMed ID: 5005748 [No Abstract] [Full Text] [Related]
14. Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7. Lopez-Rangel E; Hrynchak M; Friedman JM Am J Med Genet; 1993 Sep; 47(3):326-9. PubMed ID: 8135275 [TBL] [Abstract][Full Text] [Related]
15. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Li M; Zackai EH; Niikawa N; Kaplan P; Driscoll DA Am J Med Genet; 1996 Oct; 65(2):101-3. PubMed ID: 8911598 [TBL] [Abstract][Full Text] [Related]
16. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. Hamel BC; Mariman EC; van Beersum SE; Schoonbrood-Lenssen AM; Ropers HH Am J Med Genet; 1994 Jul; 51(4):591-7. PubMed ID: 7943045 [TBL] [Abstract][Full Text] [Related]
17. Filippi syndrome: report of three additional cases. Williams MS; Williams JL; Wargowski DS; Pauli RM; Pletcher BA Am J Med Genet; 1999 Nov; 87(2):128-33. PubMed ID: 10533026 [TBL] [Abstract][Full Text] [Related]
18. The MIller-Dieker syndrome. Jones KL; Gilbert EF; Kaveggia EG; Opitz JM Pediatrics; 1980 Aug; 66(2):277-81. PubMed ID: 7402813 [TBL] [Abstract][Full Text] [Related]
19. A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation. Schinzel A Helv Paediatr Acta; 1980 Jul; 35(3):243-51. PubMed ID: 6250998 [TBL] [Abstract][Full Text] [Related]
20. Two female siblings with congenital heart disease, postaxial polydactyly, ectopic neuropituitary gland, hair anomalies and characteristic facial features: a new syndrome? Goossens L; Janssens S; Meersschaut V; Peeters H; Devlieger H; Devriendt K Clin Dysmorphol; 2006 Apr; 15(2):71-4. PubMed ID: 16531731 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]