(Q39508664)

12 September 2017

title

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia (English)

1 reference

12 September 2017

Digilio MC

1

1 reference

12 September 2017

Marino B

2

1 reference

12 September 2017

Ammirati A

3

1 reference

12 September 2017

Borzaga U

4

1 reference

12 September 2017

Giannotti A

5

1 reference

12 September 2017

Dallapiccola B

6

1 reference

12 September 2017

publication date

1 June 1999

1 reference

American Journal of Medical Genetics Part A

12 September 2017

published in

1 reference

12 September 2017

volume

84

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12 September 2017

issue

4

1 reference

12 September 2017

page(s)

350-356

1 reference

Hydrolethalus syndrome in consecutive African siblings

12 September 2017

cites work

1 reference

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A new short rib syndrome: report of two cases

21 January 2018

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International classification of osteochondrodysplasias. International Working Group on Constitutional Diseases of Bone

21 January 2018

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Short rib-polydactyly syndrome, type Verma-Naumoff.

21 January 2018

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Chondroectodermal dysplasia (Ellis--van Creveld syndrome) with dysplasia of renal medulla and bile ducts

21 January 2018

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Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer.

21 January 2018

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Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

21 January 2018

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Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus

21 January 2018

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Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal

21 January 2018

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The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

21 January 2018

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Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

21 January 2018

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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature

21 January 2018

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A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

21 January 2018

1 reference

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Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus

21 January 2018

1 reference

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Ellis-van Creveld syndrome in identical twins

21 January 2018

1 reference

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Short rib syndrome--Beemer type in sibs

21 January 2018

1 reference

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Twin fetuses with abnormalities that overlap with three midline malformation complexes

21 January 2018

1 reference

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Beemer-Langer syndrome with manifestations of an orofaciodigital syndrome

21 January 2018

1 reference

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Polysyndactyly, short limbs, and genital malformations--a new syndrome?

21 January 2018

1 reference

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Congenital heart disease in patients with Down's syndrome: anatomic and genetic aspects

21 January 2018

1 reference

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Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum

21 January 2018

1 reference

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Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies

21 January 2018

1 reference

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On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

21 January 2018

1 reference

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Polysplenia: a review of 146 cases

21 January 2018

1 reference

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Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies

21 January 2018

1 reference

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The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

21 January 2018

1 reference

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Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.

21 January 2018

1 reference

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Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.

21 January 2018

1 reference

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Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes

21 January 2018

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Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective

21 January 2018

1 reference

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Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature

21 January 2018

1 reference

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Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia.

21 January 2018

1 reference

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Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly

21 January 2018

1 reference

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Oral-facial-skeletal syndromes

21 January 2018

1 reference

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Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p

21 January 2018

1 reference

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Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

21 January 2018

1 reference

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[Value of echocardiography in Ellis-Van Creveld syndrome]

21 January 2018

1 reference

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Monosomy 8p: an easily overlooked syndrome.

21 January 2018

1 reference

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Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism

21 January 2018

1 reference

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Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy

21 January 2018

1 reference

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Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1

21 January 2018

1 reference

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Chondroectodermal dysplasia (Ellis-van Creveld disease); a case report

21 January 2018

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A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment

21 January 2018

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Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases

21 January 2018

1 reference

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Heart malformation as a feature of the Mohr syndrome

21 January 2018

1 reference

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Prenatal diagnosis of short rib (polydactyly) syndrome with situs inversus

21 January 2018

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Ellis-van Creveld Syndrome Associated with Complete Situs Inversus

21 January 2018

1 reference

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Ellis-van Creveld syndrome.

21 January 2018

1 reference

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Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum

21 January 2018

1 reference

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Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome?

21 January 2018

1 reference

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[Short rib-polydactyly syndromes]

21 January 2018

1 reference

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Single atrium and the Ellis-van Creveld syndrome

21 January 2018

1 reference

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Prenatal diagnosis of Mohr syndrome by ultrasonography

21 January 2018

1 reference

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Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association

21 January 2018

1 reference

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Congenital heart disease and chondroectodermal dysplasia. Report of two cases, one in a Negro

21 January 2018

1 reference

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Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?

21 January 2018

1 reference

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Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome

21 January 2018

1 reference

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HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

21 January 2018

1 reference

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Ellis-Van Creveld syndrome; report of two cases in siblings

21 January 2018

1 reference

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Orofaciodigital syndrome type IV: report of a patient

21 January 2018

1 reference

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Post-axial hexodactily and single atrium: a new syndrome?

21 January 2018

1 reference

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Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type.

21 January 2018

1 reference

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Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome)

21 January 2018

1 reference

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Hydrometrocolpos in infancy

21 January 2018

1 reference

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Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism

21 January 2018

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The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

21 January 2018

1 reference

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McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period

21 January 2018

1 reference

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Overlap between Majewski and hydrolethalus syndromes: a report of two cases

21 January 2018

1 reference

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Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Case Report

21 January 2018

1 reference

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Unusual short rib-polydactyly syndrome

21 January 2018

1 reference

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Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

21 January 2018

1 reference

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Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

21 January 2018

1 reference

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McKusick-Kaufman syndrome: report of an instructive family

21 January 2018

1 reference

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Brief clinical report: short rib-polydactyly syndrome, Majewski type

21 January 2018

1 reference

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Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome

21 January 2018

1 reference

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Dandy-Walker malformation in Ellis-van Creveld syndrome

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19990604)84:4<350::AID-AJMG8>3.0.CO;2-E

21 January 2018

Identifiers

DOI

1 reference

12 September 2017

1 reference