Am J Med Genet. 1992 Jul 1;43(4):678-85.

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Borochowitz Z, Pavone L, Mazor G, Rizzo R, Dar H.

Source

Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.

Abstract

Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retardation with specific sociable, humorous behavior, characteristic facial appearance, excessive generalized skin, postnatal growth failure, and skeletal involvement. Consanguinity was noted in 2 patients, thus autosomal recessive inheritance is suggested.

Comment in

PMID:: 1621757; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Supplemental Content

Save items

Related citations in PubMed

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome. [Am J Med Genet. 1986]
New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.
Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM. Am J Med Genet. 1986 Nov; 25(3):413-27.
Review Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology. [Am J Med Genet. 1993]
Review Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
Zampino G, Mastroiacovo P, Ricci R, Zollino M, Segni G, Martini-Neri ME, Neri G. Am J Med Genet. 1993 Aug 15; 47(2):176-83.
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. [Am J Med Genet. 1985]
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
Richieri-Costa A, Colletto GM, Gollop TR, Masiero D. Am J Med Genet. 1985 Apr; 20(4):631-8.
Review Filippi syndrome: a new case with skeletal abnormalities. [J Med Genet. 1995]
Review Filippi syndrome: a new case with skeletal abnormalities.
Héron D, Billette de Villemeur T, Munnich A, Lyonnet S. J Med Genet. 1995 Aug; 32(8):659-61.
Costello syndrome and facio-cutaneous-skeletal syndrome. [Am J Med Genet. 1993]
Costello syndrome and facio-cutaneous-skeletal syndrome.
Philip N, Mancini J. Am J Med Genet. 1993 Aug 15; 47(2):174-5.

See reviews... See all...

Cited by 5 PubMed Central articles

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. [Am J Hum Genet. 2000]
Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.
Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R. Am J Hum Genet. 2000 Mar; 66(3):859-72.
Costello syndrome: two cases with embryonal rhabdomyosarcoma. [J Med Genet. 1998]
Costello syndrome: two cases with embryonal rhabdomyosarcoma.
Kerr B, Eden OB, Dandamudi R, Shannon N, Quarrell O, Emmerson A, Ladusans E, Gerrard M, Donnai D. J Med Genet. 1998 Dec; 35(12):1036-9.
Review Costello syndrome. [J Med Genet. 1998]
Review Costello syndrome.
Philip N, Sigaudy S. J Med Genet. 1998 Mar; 35(3):238-40.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with fac...
New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.
Am J Med Genet. 1992 Jul 1 ;43(4):678-85.

PubMed
The mammalian target of the rapamycin (mTOR) kinase pathway: its role in tumouri...
The mammalian target of the rapamycin (mTOR) kinase pathway: its role in tumourigenesis and targeted antitumour therapy.
Cell Mol Biol Lett. 2005 ;10(3):479-98.

PubMed
The carbacephems: a new beta-lactam antibiotic class.
The carbacephems: a new beta-lactam antibiotic class.
Am J Med. 1992 Jun 22 ;92(6A):2S-6S.

PubMed
Practice patterns of physician members of the American Urogynecologic Society re...
Practice patterns of physician members of the American Urogynecologic Society regarding female sexual dysfunction: results of a national survey.
J Urol. 2005 Nov ;174(5):1938.

PubMed
Observed effect of age and body mass index on total and complexed PSA: analysis ...
Observed effect of age and body mass index on total and complexed PSA: analysis from a National Screening Program.
J Urol. 2005 Nov ;174(5):1825-6.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

New multiple congenital anomalies: mental retardation syndrome (MCA/MR) with facio-cutaneous-skeletal involvement.

Source

Abstract

Comment in

Publication Types, MeSH Terms

Publication Types

MeSH Terms

LinkOut - more resources

Other Literature Sources

Supplemental Content

Save items

Related citations in PubMed

Cited by 5 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information