Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 2102607

A pathogenesis-oriented classification of congenital abnormalities.

A Czeizel
View original source ↗Export metadata ↓

Abstract

The modern anatomical-pathological approach in the evaluation of congenital abnormalities (isolate: single, complex, polytopic field defect, sequence and multiple: syndrome, association, random combination) is shown. Due to the population-based Hungarian Congenital Malformation Registry a number of new congenital abnormality entities were described.

Explore related subjects

Abnormalities, MultipleCongenital AbnormalitiesHumansHungaryPrevalenceJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

A Czeizel. 1990. A pathogenesis-oriented classification of congenital abnormalities.. https://pubmed.ncbi.nlm.nih.gov/2102607/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2005

[Niikawa-Kuroki syndrome. Which characteristics must the HNO doctor consider in its diagnosis].

Niikawa-Kuroki syndrome (Kabuki make-up syndrome) is a congenital disorder with characteristic facial features and possibly anomalies of the skeletal system and internal organs. There is an increasing number of reports of patients with combined hearing impairment, inner ear deformities or sensorineural hearing impairment. In addition, the patients often suffer from therapy-resistant chronic otitis media. In addition to multiple cardiac and renal deformities, our 3 year old patient has a hearing impairment due to chronic otitis media with chronic otorrhea, and requires a hearing aid. A high-definition CT scan of the petrosal bone revealed, for the first time in a patient with Niikawa-Kuroki syndrome, a large vestibular aqueduct syndrome and deformities of the vestibular system. We examine the problems involved with treating chronic otorrhea in chronic otitis media and providing patients with BTE hearing aids.

Abnormalities, Multiple↗
PubMed2004

Cutaneous T-cell lymphoma in a 21-year-old male with Wolf-Hirschhorn syndrome.

We describe a case of cutaneous T-cell lymphoma occurring in a 21-year-old male with Wolf-Hirschhorn syndrome (WHS) due to a chromosome 4p16.3 deletion. This is the first documented case report of malignancy occurring in an adult with WHS. We also review the literature regarding patients with WHS and the joint occurrence of malignancy and discuss genetic changes involving chromosome 4 which may have contributed to the genesis of our patient's lymphoma.

Abnormalities, Multiple↗