| A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma. | |
| | |
MedLine Citation:
|
PMID: 10532178 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum. |
| | |
Authors:
|
M K Thong; E Thompson; R Keenan; K Simmer; M Harbord; G Davidson; E Haan |
Related Documents
:
|
15984958 - Klippel-trenaunay syndrome. 3780268 - Intracranial gyriform calcification associated with subarachnoid fat. 9613758 - Erdheim-chester disease with extensive intraaxial brain stem lesions presenting as a pr... 1669958 - Successful treatment of kasabach-merritt syndrome with prednisone and epsilon-aminocapr... 17494788 - Obstructive sleep apnea syndrome is associated with some components of metabolic syndrome. 8193408 - A case of hutchinson-gilford progeria syndrome mimicking scleredema in early infancy. |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Clinical dysmorphology Volume: 8 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1999 Oct |
Date Detail:
|
Created Date: 1999-11-16 Completed Date: 1999-11-16 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
|
Languages: eng Pagination: 283-6 Citation Subset: IM |
Affiliation:
|
South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, Australia. thongmk@mail.wch.sa.gov.au |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple* Child, Preschool Developmental Disabilities* Head / abnormalities* Humans Intestines / abnormalities* Lymphangiectasis / congenital* Male Pigmentation Disorders Psychomotor Performance Skin / blood supply* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Disorganisation: a case with popliteal pterygia and placental-skin appendages.
Next Document: Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Sch...