Literature DB >> 1264091

[Unviable micromelic dwarfism: a syndrome with dystrophy of the thorax and polydaktyly type Saldino-Noonan (author's transl)].

R Krepler, G Weissenbacher, S Leodolter, E Müller-Tyl.   

Abstract

Besides classical achondroplasia various severe osteochondrodysplastic disorders have been differentiated in recent years. Their most important features include obligatory perinatal mortality, severe dystrophy of the thorax and shortening of tubular bones. Additionally some of these syndromes present visceral malformations, cleft-lip, and malformations of the genitals. A detailed case report of a patient is given. Various features: dystrophy of the thorax, micromelia, postaxial polydactyly, metaphyseal dysplasia, malformations of the great vessels, and polcystic kidney suggest the classification as short rib-polydactyly syndrome, type Saldino-Noonan.

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Mesh:

Year:  1976        PMID: 1264091

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd


  4 in total

1.  Oral abnormalities in the Saldino-Noonan syndrome.

Authors:  H Strømme Koppang; H Boman; P S Hoel
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

2.  Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation.

Authors:  W Grote; D Weisner; U Jänig; D Harms; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

3.  Short rib-polydactyly syndrome type I, Saldino-Noonan.

Authors:  N Kaibara; M Eguchi; K Shibata; K Takagishi
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

4.  Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors:  R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

  4 in total

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