Share This Author
Syndromes of the Head and Neck
Deformations and disruptions Teratogenic agents Chromosomal syndromes I: common and/or well known syndromes Chromosomal syndromes II: unusual variants METABOLIC DISORDERS the mucopolysaccharidoses…
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
- L. Biesecker, R. Happle, M. Cohen
- Medicine, PsychologyAmerican journal of medical genetics
- 11 June 1999
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p are presented.
Craniosynostosis : diagnosis, evaluation, and management
This new edition has been rewritten and new chapters have been added on the growth of sutures, craniofacial surgery, and epidemiology and clinical correlations on the molecular basis of craniosynostosis, with emphasis on fibroblast growth receptors.
Sutural biology and the correlates of craniosynostosis.
- M. Cohen
- MedicineAmerican journal of medical genetics
- 1 October 1993
This analysis indicates that although patent sutures aid in the growth process, some growth can take place after suture closure, and cessation of growth does not necessarily, or always lead to fusion of suture, and two conclusions are provocative.
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
- M. Cohen
- Biology, MedicineBirth defects research. Part A, Clinical and…
- 1 September 2006
Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain…
Beckwith-Wiedemann Syndrome: Historical, Clinicopathological, and Etiopathogenetic Perspectives
- M. Cohen
- MedicinePediatric and developmental pathology : the…
- 1 May 2005
The molecular basis of Beckwith-Wiedemann syndrome is complex, involving deregulation of imprinted genes found in 2 domains within the 11p15 region: telomeric Domain 1 (IGF2 and H19) and centromeric Domain 2 (KCNQ1, KCNQ 1OT1, and CDKN1C).
Critical Respiratory Events in the Postanesthesia Care Unit: Patient, Surgical, and Anesthetic Factors
Multiple patient and surgical factors and specific aspects of anesthetic management are associated with the occurrence of a critical respiratory event in the postanesthesia care unit (PACU).
Oculoauriculovertebral spectrum: an updated critique.
A number of conditions are discussed that are commonly differentiated from oculoauriculovertebral spectrum but have overlapping relationships, in some instances, with frontonasal dysplasia, branchio-oto-renal (BOR) syndrome, Townes-Brocks syndrome, Wildervanck syndrome, DiGeorge sequence, and several associations.