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Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
Am J Med Genet. 1983 May; 15(1):71-7.AJ

Abstract

We describe in a mother and her infant daughter a previously unreported syndrome of unusual craniofacial, hand, and digital anomalies. Both mother and child have a flat facial profile, hypertelorism, hypoplastic nose with slit-like nares, and a sensorineural hearing loss. Common radiographic manifestations include small maxilla, absent or small nasal bones, and ulnar deviation of the hands. This is either an autosomal dominant or X-linked trait.

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Publisher Full Text

Authors

Sommer A
No affiliation info available
Young-Wee T
No affiliation info available
Frye T
No affiliation info available

MeSH

Abnormalities, MultipleAdultDeafnessFaceFemaleGenes, DominantHand Deformities, CongenitalHumansHypertelorismInfant, NewbornMaxillaNasal BonePregnancySkullSyndromeX Chromosome

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6859126

Citation

Sommer, A, et al. "Previously Undescribed Syndrome of Craniofacial, Hand Anomalies, and Sensorineural Deafness." American Journal of Medical Genetics, vol. 15, no. 1, 1983, pp. 71-7.
Sommer A, Young-Wee T, Frye T. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. Am J Med Genet. 1983;15(1):71-7.
Sommer, A., Young-Wee, T., & Frye, T. (1983). Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. American Journal of Medical Genetics, 15(1), 71-7.
Sommer A, Young-Wee T, Frye T. Previously Undescribed Syndrome of Craniofacial, Hand Anomalies, and Sensorineural Deafness. Am J Med Genet. 1983;15(1):71-7. PubMed PMID: 6859126.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness. AU - Sommer,A, AU - Young-Wee,T, AU - Frye,T, PY - 1983/5/1/pubmed PY - 1983/5/1/medline PY - 1983/5/1/entrez SP - 71 EP - 7 JF - American journal of medical genetics JO - Am J Med Genet VL - 15 IS - 1 N2 - We describe in a mother and her infant daughter a previously unreported syndrome of unusual craniofacial, hand, and digital anomalies. Both mother and child have a flat facial profile, hypertelorism, hypoplastic nose with slit-like nares, and a sensorineural hearing loss. Common radiographic manifestations include small maxilla, absent or small nasal bones, and ulnar deviation of the hands. This is either an autosomal dominant or X-linked trait. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/6859126/Previously_undescribed_syndrome_of_craniofacial_hand_anomalies_and_sensorineural_deafness_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1983&volume=15&issue=1&spage=71 DB - PRIME DP - Unbound Medicine ER -