Professor, Pediatrics, University of Cincinnati College of Medicine
Medical Genetics
Dr. Howard M. Saal, MD
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Howard Saal works in the field of Medical Genetics. He attended Wayne State University School of Medicine. Wayne State University School of Medicine has a rank of 63 in research and a 85 in primary care He received awards:"America's Top Doctors" and "Whos Who in Medicine and Healthcare". Howard Saal is a published doctor as well. He has 79 publications published. The latest was: Progressive laryngotracheal stenosis with short stature and arthropathy.
Publications
- Decision Making for Children with Obstructive Sleep Apnea without Tonsillar Hypertrophy.
- A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.
- Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia.
- Predictive value of fetal lung volume in prenatally diagnosed skeletal dysplasia.
- Cost Analysis of Mandibular Distraction versus Tracheostomy in Neonates with Pierre Robin Sequence.
- Small bowel malrotation in distal 15q duplication: evidence for a rare association.
- Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.
- Recommendations for returning genomic incidental findings? We need to talk!
- Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation.
- Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing.
- Pediatric Plexiform Neurofibromas: Impact on Morbidity and Mortality in Neurofibromatosis Type 1.
- Neonates with Tongue-Based Airway Obstruction: A Systematic Review.
- Intestinal malrotation in a patient with pfeiffer syndrome type 2.
- Parental perspectives of children born with cleft lip and/or palate: a qualitative assessment of suggestions for healthcare improvements and interventions.
- Evaluation of growth in patients with isolated cleft lip and/or cleft palate.
- DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.
- Characterization of congenital anomalies in individuals with choanal atresia.
- Interstitial deletion of 13q associated with polymicrogyria.
- Epidemiology of hemimegalencephaly: a case series and review.
- Valproate embryopathy: clinical and cognitive profile in 5 siblings.
- Family communication about positive BRCA1 and BRCA2 genetic test results.
- Dilated ascending aorta in a child with ring chromosome 21 syndrome.
- Upper airway malformation associated with partial trisomy 11q.
- Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.
- Outcomes of a genetics education program for nursing faculty.
- Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Prenatal diagnosis: when the clinician disagrees with the patient's decision.
- Molar pregnancy coexisting with a normal fetus: a case report.
- Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes.
- Middle ear disease in childhood achondroplasia.
- Small deletions of the short arm of the Y chromosome in 46,XY females.
- Rapid progression of prostate cancer in men with a BRCA2 mutation.
- Molecular detection of a translocation (Y;15) in a 45,X male.
- Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.
- Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.
- Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.
- Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.
- Social and emotional problems in children with neurofibromatosis type 1: evidence and proposed interventions.
- Progressive laryngotracheal stenosis with short stature and arthropathy.
- Partial trisomy 1q with growth hormone deficiency and normal intelligence.
- Thoracic tumors in children with neurofibromatosis-1.
- New insights into the phenotypes of 6q deletions.
- Ullrich-Turner syndrome and neurofibromatosis-1.
- Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.
- Prenatal diagnosis of ring chromosome 6 in a fetus with hydrocephalus.
- Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings.
- Gaucher disease: a prototype for molecular medicine.
- Neonatal intensive care as a locus for ethical decisions.
- Airway obstruction in the Pierre Robin sequence.
- Brachmann-de Lange syndrome with normal IQ.
- PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
- Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.
- Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.
- Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum.
- Yogurt. Contributory factor in development of nutritional rickets.
- Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review.
- Autosomal recessive Robinow-like syndrome with anterior chamber cleavage anomalies.
- Screening the newborn for anatomic and metabolic defects.
- Cytogenetic evaluation of fetal death: the role of amniocentesis.
- Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.
- Screening for fetal Down's syndrome in pregnancy by measuring maternal serum alpha-fetoprotein levels.
- Reevaluation of Russell-Silver syndrome.
- Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
- A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis.
- Dominant syndrome with isolated cryptophthalmos and ocular anomalies.
- Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1.
- Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns'' syndrome.
- Clinician activism and ethical restraints in providing treatment: preventive as opposed to reconstructive approaches.
- New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.
- Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
- Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?
- Hepatic mesenchymal hamartoma: cytogenetic analysis of a case and review of the literature.
- Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update.
- Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with cleft lip.
- Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Guidelines for the design and analysis of studies on nonsyndromic cleft lip and cleft palate in humans: summary report from a Workshop of the International Consortium ...
- Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
- Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Schools
Wayne State University School Of Medicine
University Conn
University of Washington
Doctors Specialties
- Clinical Cytogenetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
- Aetna HMO
- Choice Plus POS II
- Amerigroup (Wellpoint)
- Pathway X Tiered Hosp/Ind Direct Access OH
- Anthem Blue Cross Blue Shield HMO
- Blue Card PPO
- Blue Cross Blue Shield of Illinois PPO
- Bluegrass Family Health
- CareSource
- Cigna HMO
- Cigna PPO
- Great West Healthcare-Cigna PPO
- Open Access Plus
- Cofinity PPO
- Commercial Insurance Company
- Coventry Health America PPO
- First Health (Coventry Health Care) PPO
- Choice Care PPO
- Preferred PPO
- Managed Care (Non-HMO)
- Medicaid
- Medical Mutual of Ohio
- Medicare MCR
- Molina
- PHCS Network PPO
- Mutual of Omaha
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
- United Healthcare
Awards
- America's Top Doctors
- Whos Who in Medicine and Healthcare
Education
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University of Washington -
University of Connecticut -
Wayne State University School of Medicine
Hospital
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Cincinnati Children's Hospital Medical Center
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