Document Detail


Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management.
MedLine Citation:
PMID:  9741469     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Eight new and five previously illustrated patients with Niikawa-Kuroki syndrome (NKS) are compared to those in the literature, providing data on 183 cases. Eight patients had disproportionate microcephaly and in one autopsied patient there was frontal lobe atrophy, focal polymicrogyria, and a hypoplastic fourth ventricle. The metacarpophalangeal pattern profiles of three Caucasian patients with NKS were similar to that of a prior case report, but those of two Hispanic patients were more variable. NKS was eliminated by follow-up in nine suspect cases, highlighting the diagnostic value of findings such as arched eyebrows, long palpebral fissures, flat nasal tip, and prominent finger pads. One patient suspected of having NKS had a very different metacarpophalangeal pattern profile, supporting its diagnostic utility in selected cases. Higher frequencies of neonatal complications, abnormal dentition, hypotonia, and microcephaly were noted in non-Asian patients with NKS, while a higher frequency of skeletal anomalies was seen in Japanese patients. Complications affecting cognitive, visual, hearing, cardiac, renal, skeletal, immune, and endocrinologic functions are translated into a program for preventive management. X chromosome anomalies are the most compelling of diverse genetic changes seen in NKS, and this report adds another case to several possible instances of vertical transmission. The 108 non-Asian patients now reported emphasize the worldwide significance of NKS recognition.
Authors:
G N Wilson
Related Documents :
8014809 - Hirschsprung's disease associated with ondine's curse: report of three cases and review...
24183889 - West nile fever in israel: the reemergence of an endemic disease.
24833459 - Orbital myxofibrosarcoma: a clinicopathologic correlation of an extremely rare tumor.
12909819 - Atypical neuroleptics and diabetes.
14959959 - Symmetrical peripheral gangrene.
10628549 - Lymphangioma of the tongue presenting as ludwig's angina.
10826269 - A review of the neuropathology of human spinal cord injury with emphasis on special fea...
23818479 - Thoughts about conceptual models, theories, and literature reviews.
18840199 - Two cases of epidural anesthesia-associated postoperative decubitus.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  79     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Sep 
Date Detail:
Created Date:  1998-11-24     Completed Date:  1998-11-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  112-20     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas 75235-9063, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple* / diagnosis,  epidemiology,  genetics
Child
Child, Preschool
Developmental Disabilities
Disease Management
Face / abnormalities,  pathology
Female
Growth Disorders / diagnosis
Humans
Infant
Male
Metacarpophalangeal Joint
Prevalence
Sudden Infant Death
Syndrome*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Survival of children with Down syndrome in South America. ECLAMC-Downsurv Group. Latin American Coll...
Next Document:  Trisomy 16 and trisomy 16 Mosaicism: a review.