Document Detail

A distinct skeletal dysplasia in an infant from consanguineous parents.
MedLine Citation:
PMID:  890089     Owner:  NLM     Status:  MEDLINE    
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.
J M Cantú; C Manzano; P Pagán; D García-Cruz; A Hernández
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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    
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MeSH Terms
Bone Diseases, Developmental / diagnosis*,  radiography
Child, Preschool
Diagnosis, Differential
Dwarfism / congenital
Face / abnormalities
Infant, Newborn
Infant, Newborn, Diseases / diagnosis*
Limb Deformities, Congenital
Skull / abnormalities
Spine / abnormalities

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

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