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Literature DB >> 1404297

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

P D Turnpenny¹, J C Dean, P Duffty, J A Reid, P Carter.

Abstract

We describe a two generation family with variable ulnar and radial ray reduction and midline craniofacial abnormalities. The features suggest a diagnosis of Weyers' ulnar ray/oligodactyly syndrome originally described in two isolated cases. Syndromes of ulnar ray reduction are briefly reviewed and the relationship between limb bud and midline development discussed.

Entities: Disease

Mesh：

Year: 1992 PMID： 1404297 PMCID： PMC1016100 DOI： 10.1136/jmg.29.9.659

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

14 in total

1. [The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen].

Authors: H WEYERS
Journal: Ann Paediatr Date: 1957-12

2. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.

Authors: J M Cantú; A Hernández; J Ramírez; M Bernal; G Rubio; J Urrusti; S Franco-Vázquez
Journal: Birth Defects Orig Artic Ser Date: 1975

3. An unusual cardiomelic syndrome.

Authors: R F Stratton; N Koehler; W R Morrow
Journal: Am J Med Genet Date: 1988-02

4. Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families.

Authors: A Richieri-Costa; J M Opitz
Journal: Am J Med Genet Suppl Date: 1986

Weyers' ulnar ray/oligodactyly syndrome and the association of midline malformations with ulnar ray defects.

1. [The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen].

2. Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder.

3. An unusual cardiomelic syndrome.

4. Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families.

5. Homeobox gene expression correlated with the bifurcation process of limb cartilage development.

6. New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion.

7. Holt-Oram syndrome.

8. New acrofacial dysostosis syndrome in 3 sibs.

9. Roberts syndrome and SC phocomelia. A single genetic entity.

10. Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome.

1. Weyers' ulnar ray/oligodactyly syndrome.