(Q33672406)

28 July 2017

The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs (English)

1 reference

28 July 2017

0 references

1 reference

1 reference

Donnai D

1

1 reference

28 July 2017

Young ID

2

1 reference

28 July 2017

Owen WG

3

1 reference

28 July 2017

Clark SA

4

1 reference

28 July 2017

Miller PF

5

1 reference

28 July 2017

Knox WF

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1986

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

23

1 reference

28 July 2017

64-71

1 reference

28 July 2017

1

1 reference

Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Further delineation of the C (trigonocephaly) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malforma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

A computerised data base for the diagnosis of rare dysmorphic syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049544

Micrognathia, polydactyly, and cleft palate

21 June 2018

1 reference

12 December 2020

Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition

1 reference

12 December 2020

Brief clinical report: familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith-Lemli-Opitz (RSH) syndrome

1 reference

12 December 2020

Editorial comment: variability in the Smith-Lemli-Opitz syndrome: overlap with the Meckel syndrome

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome in two 46,XY infants with female external genitalia

1 reference

12 December 2020

Smith-Lemli-Opitz syndrome and Hirschsprung disease

1 reference

12 December 2020

Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

1 reference

12 December 2020

Identifiers

PMCID

1049544

1 reference

28 July 2017

1 reference