Literature DB >> 594914

A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect.

M Piepkorn, L E Karp, D Hickok, L Wiegenstein, J G Hall.   

Abstract

A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.

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Year:  1977        PMID: 594914     DOI: 10.1002/tera.1420160315

Source DB:  PubMed          Journal:  Teratology        ISSN: 0040-3709


  5 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.  Ocular pathology of the Majewski syndrome.

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

3.  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

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

5.  Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

Authors:  Helga Rehder; Franco Laccone; Susanne G Kircher; Ralf L Schild; Christiane Rapp; Rainer Bald; Bernt Schulze; Jana Behunova; Juergen Neesen; Katharina Schoner
Journal:  Am J Med Genet A       Date:  2018-05-23       Impact factor: 2.802

  5 in total

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