Literature DB >> 4816160

Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan.

J Spranger, B Grimm, M Weller, G Weissenbacher, J Herrmann, E Gilbert, R Krepler.   

Abstract

Mesh:

Year:  1974        PMID: 4816160     DOI: 10.1007/bf00491508

Source DB:  PubMed          Journal:  Z Kinderheilkd        ISSN: 0044-2917


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  20 in total

1.  [Polysyndactyly, short limbs, and genital malformations--a new syndrome?].

Authors:  F Majewski; R A Pfeiffer; W Lenz; R Müller; G Feil; R Seiler
Journal:  Z Kinderheilkd       Date:  1971

2.  The Meckel syndrome with limited expression in relatives.

Authors:  N Fitch; L Pinsky
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

3.  Asphyxiating thoracic chondrodystrophy. Association with renal disease and evidence for possile heterozygous expression.

Authors:  M H Shokeir; C S Houston; C F Awen
Journal:  J Med Genet       Date:  1971-03       Impact factor: 6.318

4.  [Diagnosis of chondrodystrophic dwarfism in the newborn].

Authors:  P Maroteaux; M Lamy
Journal:  Arch Fr Pediatr       Date:  1968-03

5.  Fatal neonatal dwarfism.

Authors:  C Stuart Houston; C F Awen; H P Kent
Journal:  J Can Assoc Radiol       Date:  1972-03

6.  Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.

Authors:  R M Saldino
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1971-05

7.  Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

Authors:  S Mecke; E Passarge
Journal:  Ann Genet       Date:  1971-06

8.  [Three new cases of Meckel's syndrome or Gruber's splanchnocystic dysencephaly in siblings. Anatomo-pathologic and cytogenetic study. Nosologic discussion].

Authors:  J Naffah; G Ghosn; N Gharios
Journal:  Arch Fr Pediatr       Date:  1972-12

9.  Genetics of the Meckel syndrome (dysencephalia splanchnocystica).

Authors:  Y E Hsia; M Bratu; A Herbordt
Journal:  Pediatrics       Date:  1971-08       Impact factor: 7.124

10.  Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases.

Authors:  H L SMITH; A M HAND
Journal:  Pediatrics       Date:  1958-02       Impact factor: 7.124

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  16 in total

1.  Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies.

Authors:  Manisha Kumar; Rama Anand; Reenu Jain; S Shukla; Chetna Bhatt
Journal:  J Obstet Gynaecol India       Date:  2016-05-19

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

Authors:  D Sillence; K Kozlowski; J Bar-ziv; A Fuhrumann-Rieger; W Fuhrmann; F Pascu
Journal:  Pediatr Radiol       Date:  1987

3.  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

4.  A female infant with features of Mohr and Majewski syndromes: variable expression, a genetic compound, or a distinct entity?

Authors:  M Baraitser; J Burn; J Fixsen
Journal:  J Med Genet       Date:  1983-02       Impact factor: 6.318

5.  Ocular pathology of the Majewski syndrome.

Authors:  J Chess; D M Albert
Journal:  Br J Ophthalmol       Date:  1982-11       Impact factor: 4.638

6.  Difficulties in classification of the short rib-polydactyly syndromes.

Authors:  E D Cherstvoy; I W Lurie; I A Shved; G I Lazjuk; T I Ostrowskaya; S S Usoev
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

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

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

8.  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

Review 9.  Glomerulocystic kidney disease--nosological considerations.

Authors:  J Bernstein
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

10.  Transabdominal embryofetoscopy for the detection of short rib-polydactyly syndrome, type II(Majewski), in the first trimester.

Authors:  Kook Lee; Jin Woo Lee; Doo Byung Chay; Sang Hee Lee; Si Hyun Cho; Bo Wook Kim; Ju Youn Hwang; Min Soo Park
Journal:  J Korean Med Sci       Date:  2006-02       Impact factor: 2.153

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