A new syndrome with distinct facial and auricular malformations and dominant inheritance.Am J Med Genet. 1989 Feb; 32(2):184-6.AJ
Abstract
We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
Links
MeSH
Pub Type(s)
Case Reports
Journal Article
Language
eng
PubMed ID
2929657
Citation
Simosa, V, et al. "A New Syndrome With Distinct Facial and Auricular Malformations and Dominant Inheritance." American Journal of Medical Genetics, vol. 32, no. 2, 1989, pp. 184-6.
Simosa V, Penchaszadeh VB, Bustos T. A new syndrome with distinct facial and auricular malformations and dominant inheritance. Am J Med Genet. 1989;32(2):184-6.
Simosa, V., Penchaszadeh, V. B., & Bustos, T. (1989). A new syndrome with distinct facial and auricular malformations and dominant inheritance. American Journal of Medical Genetics, 32(2), 184-6.
Simosa V, Penchaszadeh VB, Bustos T. A New Syndrome With Distinct Facial and Auricular Malformations and Dominant Inheritance. Am J Med Genet. 1989;32(2):184-6. PubMed PMID: 2929657.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - A new syndrome with distinct facial and auricular malformations and dominant inheritance.
AU - Simosa,V,
AU - Penchaszadeh,V B,
AU - Bustos,T,
PY - 1989/2/1/pubmed
PY - 1989/2/1/medline
PY - 1989/2/1/entrez
SP - 184
EP - 6
JF - American journal of medical genetics
JO - Am J Med Genet
VL - 32
IS - 2
N2 - We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no "whistling" face or deviation of fingers. Although resembling in some ways the Freeman-Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X-linked dominant.
SN - 0148-7299
UR - https://www.unboundmedicine.com/medline/citation/2929657/A_new_syndrome_with_distinct_facial_and_auricular_malformations_and_dominant_inheritance_
L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1989&volume=32&issue=2&spage=184
DB - PRIME
DP - Unbound Medicine
ER -