Document Detail


A distinct skeletal dysplasia in an infant from consanguineous parents.
MedLine Citation:
PMID:  890089     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An infant with a distinct set of skeletal anomalies was studied. The patient's main phenotypic features were short-limb dwarfism, craniofacial disproportion with prominent forehead, short neck and trunk with pectus carinatum, and platyspondyly, protuberant abdomen, acromesomelic shortness of limbs, bilateral palm simian crease, short feet with brachydactyly of the 2nd toe, and prominent heels. Differential diagnosis suggests that the case described had a previously unrecognized skeletal dysplasia. The fact that the parents were first cousins suggests a genetic, probably autosomal recessive etiology.
Authors:
J M Cantú; C Manzano; P Pagán; D García-Cruz; A Hernández
Related Documents :
15327169 - Too quiet.
19886849 - Assessing early communication behaviours: structure and validity of the communication a...
17900979 - Night waking in thai infants at 3 months of age: association between parental practices...
6653909 - Effect of neonatal complications in premature infants on early parent-infant interactions.
16938299 - Caring, chaos and the vulnerable family: experiences in caring for newborns of drug-dep...
16182489 - Perturbations in the development of infants with rett disorder and the implications for...
8757559 - Importance of microdeletions of chromosomal region 22q11 as a cause of selected malform...
7109999 - Thermal management in the care of sick neonates: a clinical appraisal.
8942019 - The first case of type b infant botulism in japan.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Birth defects original article series     Volume:  13     ISSN:  0547-6844     ISO Abbreviation:  Birth Defects Orig. Artic. Ser.     Publication Date:  1977  
Date Detail:
Created Date:  1977-10-28     Completed Date:  1977-10-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0003403     Medline TA:  Birth Defects Orig Artic Ser     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  139-47     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Bone Diseases, Developmental / diagnosis*,  radiography
Child, Preschool
Consanguinity*
Diagnosis, Differential
Dwarfism / congenital
Face / abnormalities
Humans
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*
Limb Deformities, Congenital
Male
Skull / abnormalities
Spine / abnormalities

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


Previous Document:  Hydrocarbon uptake in hydrocarbon fermentations.
Next Document:  Familial gingival fibromatosis associated with progressive deafness in five generations of a family.