214 related articles for article (PubMed ID: 1378778)
1. Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.
Grubben C; de Cock P; Borghgraef M; van den Berghe H; Fryns JP
Clin Genet; 1992 Jan; 41(1):16-21. PubMed ID: 1378778
[TBL] [Abstract][Full Text] [Related]
2. Selective IgG2 subclass deficiency--a marker for the syndrome of pre/postnatal growth retardation, developmental delay, hypotrophy of distal extremities, dental anomalies and eczema.
Ainsworth SB; Baraitser M; Mueller RF; Massey RF
Clin Dysmorphol; 1997 Apr; 6(2):139-46. PubMed ID: 9134294
[TBL] [Abstract][Full Text] [Related]
3. A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.
Temtamy SA; Meguid NA; Ismail SI; Ramzy MI
Clin Dysmorphol; 1998 Oct; 7(4):249-55. PubMed ID: 9823490
[TBL] [Abstract][Full Text] [Related]
4. Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies.
Jonas RE; Kimonis VE; Morales A
Am J Med Genet; 1997 Dec; 73(2):184-8. PubMed ID: 9409870
[TBL] [Abstract][Full Text] [Related]
5. Two sisters with Toriello-Carey syndrome.
Chinen Y; Tohma T; Izumikawa Y; Taketomi H; Iha T; Ohta T; Naritomi K
Am J Med Genet; 1999 Nov; 87(3):262-4. PubMed ID: 10564882
[TBL] [Abstract][Full Text] [Related]
6. Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?
Lyonnet S; Schwartz G; Gatin G; de Prost Y; Munnich A; Le Merrer M
J Med Genet; 1992 Jan; 29(1):68-9. PubMed ID: 1552551
[TBL] [Abstract][Full Text] [Related]
7. The acrocallosal syndrome in a Turkish boy.
Yüksel M; Caliskan M; Oğur G; Ozmen M; Dolunay G; Apak S
J Med Genet; 1990 Jan; 27(1):48-9. PubMed ID: 2308155
[TBL] [Abstract][Full Text] [Related]
8. Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
Chen CP; Lin SP; Su YN; Chern SR; Su JW; Lee CC; Wang W
Genet Couns; 2012; 23(4):447-55. PubMed ID: 23431743
[TBL] [Abstract][Full Text] [Related]
9. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.
Orrico A; Galli L; Zappella M; Orsi A; Hayek G
J Child Neurol; 2001 Feb; 16(2):150-3. PubMed ID: 11292226
[TBL] [Abstract][Full Text] [Related]
10. Hereditary spastic diplegia with mental retardation in two young siblings.
Gustavson KH; Modrzewska K; Erikson A
Clin Genet; 1989 Dec; 36(6):439-41. PubMed ID: 2591069
[TBL] [Abstract][Full Text] [Related]
11. De Barsy syndrome--an autosomal recessive, progeroid syndrome.
Kunze J; Majewski F; Montgomery P; Hockey A; Karkut I; Riebel T
Eur J Pediatr; 1985 Nov; 144(4):348-54. PubMed ID: 4076251
[TBL] [Abstract][Full Text] [Related]
12. The Costello syndrome: report of a case and review of the literature.
Kondo I; Tamanaha K; Ashimine K
Jpn J Hum Genet; 1993 Dec; 38(4):433-6. PubMed ID: 7514457
[TBL] [Abstract][Full Text] [Related]
13. A new autosomal recessive syndrome with Zellweger-like manifestations.
Ahn JK; Lev D; Leshinsky-Silver E; Ginzberg M; Lerman-Sagie T
Am J Med Genet A; 2003 Jun; 119A(3):352-5. PubMed ID: 12784304
[TBL] [Abstract][Full Text] [Related]
14. Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.
Camera G; Centa A; Pozzolo S; Camera A
Clin Dysmorphol; 1993 Oct; 2(4):317-21. PubMed ID: 8305962
[TBL] [Abstract][Full Text] [Related]
15. Confirmation of the Cohen syndrome.
Carey JC; Hall BD
J Pediatr; 1978 Aug; 93(2):239-44. PubMed ID: 671157
[TBL] [Abstract][Full Text] [Related]
16. Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.
Fryns JP; Chrzanowska K; Van den Berghe H
J Med Genet; 1989 Aug; 26(8):520-1. PubMed ID: 2769725
[TBL] [Abstract][Full Text] [Related]
17. De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
Chen CP; Lin SP; Huang YL; Chern SR; Su JW; Lee CC; Chen WL; Wang W
Genet Couns; 2012; 23(4):497-503. PubMed ID: 23431751
[TBL] [Abstract][Full Text] [Related]
18. Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.
al-Gazali LI; Bakir M; Dawodu A; Nath R; al-Tatari HM; Gerami M
Clin Dysmorphol; 1999 Oct; 8(4):253-8. PubMed ID: 10532173
[TBL] [Abstract][Full Text] [Related]
19. The acrocallosal syndrome in sisters.
Schinzel A; Kaufmann U
Clin Genet; 1986 Nov; 30(5):399-405. PubMed ID: 3802558
[TBL] [Abstract][Full Text] [Related]
20. Agenesis of the corpus callosum and macrocephaly in siblings.
Young ID; Trounce JQ; Levene MI; Fitzsimmons JS; Moore JR
Clin Genet; 1985 Sep; 28(3):225-30. PubMed ID: 3905089
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]