Literature DB >> 3712393

A Noonan-like short stature syndrome with sparse hair.

M Baraitser, M A Patton.   

Abstract

Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.

Entities:  

Mesh:

Year:  1986        PMID: 3712393      PMCID: PMC1049573          DOI: 10.1136/jmg.23.2.161

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


  5 in total

1.  THE TURNER PHENOTYPE IN THE MALE.

Authors:  R H HELLER
Journal:  J Pediatr       Date:  1965-01       Impact factor: 4.406

2.  The Noonan syndrome: a family study.

Authors:  M R Bolton; D M Pugh; L F Mattioli; M I Dunn; R N Schimke
Journal:  Ann Intern Med       Date:  1974-05       Impact factor: 25.391

3.  Phenotypic heterogeneity in the Noonan syndrome.

Authors:  R S Wilroy; R L Summitt; R E Tipton; P A Primm; P R Martens
Journal:  Birth Defects Orig Artic Ser       Date:  1979

4.  Cutaneous manifestations of Noonan's syndrome.

Authors:  H W Wyre
Journal:  Arch Dermatol       Date:  1978-06

5.  Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome.

Authors:  D O Pierini; A M Pierini
Journal:  Br J Dermatol       Date:  1979-04       Impact factor: 9.302

  5 in total
  8 in total

1.  A clinical study of Noonan syndrome.

Authors:  M Sharland; M Burch; W M McKenna; M A Paton
Journal:  Arch Dis Child       Date:  1992-02       Impact factor: 3.791

Review 2.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

3.  The craniocardioskeletal syndrome and the Noonan-like short stature syndrome are possibly the same entity.

Authors:  J Sánchez Corona; J M Cantú
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

Review 4.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

5.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

Review 6.  The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.

Authors:  A Bottani; I Hammerer; A Schinzel
Journal:  Eur J Pediatr       Date:  1991-05       Impact factor: 3.183

Review 7.  Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Authors:  Maria Claudia Jurcă; Oana Alexandra Iuhas; Maria Puiu; Adela Chiriţă-Emandi; Nicoleta Ioana Andreescu; Codruţa Diana Petcheşi; Alexandru Daniel Jurcă; Ioan Magyar; Sânziana Iulia Jurcă; Kinga Kozma; Emilia Maria Severin; Marius Bembea
Journal:  Rom J Morphol Embryol       Date:  2021 Apr-Jun       Impact factor: 1.033

Review 8.  The impact of RASopathy-associated mutations on CNS development in mice and humans.

Authors:  Minkyung Kang; Yong-Seok Lee
Journal:  Mol Brain       Date:  2019-11-21       Impact factor: 4.041

  8 in total

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