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Results: 1 to 20 of 168

1.

"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia.

De Ravel TJ, Dillen K, Fryns JP.

Genet Couns. 2002;13(4):475-6. No abstract available.

PMID:
12558120
[PubMed - indexed for MEDLINE]
2.

A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.

Buntinx IM, Lormans JA, Martin JJ, Dumon JE.

Genet Couns. 1991;2(4):237-40. No abstract available.

PMID:
1799423
[PubMed - indexed for MEDLINE]
3.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D.

Am J Med Genet A. 2005 Jan 15;132A(2):189-90. Review.

PMID:
15578583
[PubMed - indexed for MEDLINE]
4.

Syndrome identification case report 100: unusual facies, cleft palate, short stature, and mental retardation.

Feingold M, Trainer J.

J Clin Dysmorphol. 1983 Summer;1(2):22-3. No abstract available.

PMID:
6580391
[PubMed - indexed for MEDLINE]
5.

A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease.

al-Gazali LI, Aziz SA, Salem F.

Clin Dysmorphol. 1996 Oct;5(4):321-7.

PMID:
8905197
[PubMed - indexed for MEDLINE]
6.

[Pterygia-dysmorphic facies-short stature-mental retardation].

Tonoki H.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):545. Review. Japanese. No abstract available.

PMID:
11528885
[PubMed - indexed for MEDLINE]
7.

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies.

Herrmann J, Pallister PD, Tiddy W, Opitz JM.

Birth Defects Orig Artic Ser. 1975;11(5):7-18. No abstract available.

PMID:
1218237
[PubMed - indexed for MEDLINE]
8.

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals.

Morin G, Villemain L, Baumann C, Mathieu M, Blanc N, Verloes A.

Clin Dysmorphol. 2003 Oct;12(4):237-40. Review.

PMID:
14564210
[PubMed - indexed for MEDLINE]
9.

Costello syndrome: report and review.

van Eeghen AM, van Gelderen I, Hennekam RC.

Am J Med Genet. 1999 Jan 15;82(2):187-93. Review.

PMID:
9934987
[PubMed - indexed for MEDLINE]
10.

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.

Aymé S, Philip N.

Am J Med Genet. 1997 Jun 13;70(3):333-5. No abstract available.

PMID:
9188678
[PubMed - indexed for MEDLINE]
11.

Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome?

Sinnerbrink IB, Adès LC.

Clin Dysmorphol. 2004 Jul;13(3):173-7.

PMID:
15194955
[PubMed - indexed for MEDLINE]
12.

Macrocephaly, facial abnormalities, disproportionate tall stature, and mental retardation--a sib observation.

Bakker HD, Hennekam RC.

Am J Med Genet. 1997 Jun 13;70(3):312-4.

PMID:
9188672
[PubMed - indexed for MEDLINE]
13.
14.

Cohen syndrome in the Ohio Amish.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML.

Am J Med Genet A. 2004 Jul 1;128A(1):23-8.

PMID:
15211651
[PubMed - indexed for MEDLINE]
15.

X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome.

Vasquez SB, Hurst DL, Sotos JF.

J Pediatr. 1979 Jan;94(1):56-60.

PMID:
758423
[PubMed - indexed for MEDLINE]
16.

MOMO syndrome: a possible third case.

Zannolli R, Mostardini R, Hadjistilianou T, Rosi A, Berardi R, Morgese G.

Clin Dysmorphol. 2000 Oct;9(4):281-4.

PMID:
11045586
[PubMed - indexed for MEDLINE]
17.

A case with bilateral radio-ulnar synostosis.

Koç A, Kaymak AO, Karaer K, Ergün MA, Aksu T, Perçin EF.

Genet Couns. 2008;19(2):193-8. Review.

PMID:
18618994
[PubMed - indexed for MEDLINE]
18.

Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

Boneh A, Glick B, Gutman A, Mogle P.

Clin Genet. 1996 Nov;50(5):403-6.

PMID:
9007332
[PubMed - indexed for MEDLINE]
19.

Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.

Tsukahara M, Matsuo K, Furukawa S.

Am J Med Genet. 1995 Aug 28;58(2):159-60.

PMID:
8533809
[PubMed - indexed for MEDLINE]
20.

Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons-Bianchi syndrome.

Levine JJ, Echiverri S.

Am J Med Genet A. 2009 Aug;149A(8):1806-8. doi: 10.1002/ajmg.a.32651. No abstract available.

PMID:
19533797
[PubMed - indexed for MEDLINE]
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