| Mardini-Nyhan association (lung agenesis, congenital heart, and thumb anomalies): three new cases and possible recurrence in a sib-is there a distinct recessive syndrome? | |
| | |
MedLine Citation:
|
PMID: 19938090 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
In 1985, Mardini and Nyhan described three patients from consanguineous families with unilateral complete/partial lung agenesis, congenital cardiac defects, and ipsilateral thumb anomalies. Although there have been many reports of lung agenesis with other malformations, especially hemifacial microsomia and radial ray anomalies, very few demonstrate this triad of defects. We describe three patients with the Mardini-Nyhan association which may represent a distinct entity, although this remains uncertain at present. A fourth patient is also described, the sister of one of the other patients, with complex congenital cardiac disease and bilateral lung lobation abnormalities. This is the first reported incidence of a possible recurrence within a family and suggests, together with the consanguinity observed by Mardini and Nyhan, that recessive inheritance should be considered in genetic counseling for this disorder. |
| | |
Authors:
|
Rob Hastings; David Harding; Alan Donaldson; Rachel Liebling; Alison Hayes; Alison Kraus; Shelagh Joss; Shuba Narayanaswamy; Peter Turnpenny; Sarah Smithson |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Dec |
Date Detail:
|
Created Date: 2009-11-30 Completed Date: 2010-01-27 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 2838-42 Citation Subset: IM |
Affiliation:
|
Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
pathology* Fatal Outcome Female Heart Defects, Congenital / complications* Humans Infant Infant, Newborn Lung / abnormalities*, radiography Magnetic Resonance Imaging Pregnancy Recurrence Siblings* Syndrome Thumb / abnormalities*, radiography Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabd...
Next Document: Pseudoaminopterin syndrome: Clinical report with new characteristics.