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Rachel C. Lombardo, MD

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Rachel C. Lombardo, MD

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Phone Number

Locations

Phoenix Children's Hospital - Thomas Campus

1920 E. Cambridge Ave.
Rosenberg Plaza

Phoenix, AZ 85006
United States

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About Rachel C. Lombardo, MD

As a pediatrician specializing in genetics and metabolism, Rachel Lombardo, MD, evaluates and cares for children before and after birth. Her areas of expertise include skeletal dysplasia, fetal care, disorders of sexual development and congenital diarrheal disorders. The opportunity to work with an outstanding team committed to excellence in care before and after birth drew Dr. Lombardo to Phoenix Children's.

Dr. Lombardo's love and fascination with genetics started when she was a child. After earning her medical degree at the University of Texas Medical Branch in Galveston, Texas, she completed a dual residency in pediatrics and medical genetics at Cincinnati Children's Hospital in Cincinnati. Dr. Lombardo also completed additional coursework in diagnosing skeletal dysplasia at the University of Lausanne in Lausanne, Switzerland. She's certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics.

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As a pediatrician specializing in genetics and metabolism, Rachel Lombardo, MD, evaluates and cares for children before and after birth. Her areas of expertise include skeletal dysplasia, fetal care, disorders of sexual development and congenital diarrheal disorders. The opportunity to work with an outstanding team committed to excellence in care before and after birth drew Dr. Lombardo to Phoenix Children's.

Dr. Lombardo's love and fascination with genetics started when she was a child. After earning her medical degree at the University of Texas Medical Branch in Galveston, Texas, she completed a dual residency in pediatrics and medical genetics at Cincinnati Children's Hospital in Cincinnati. Dr. Lombardo also completed additional coursework in diagnosing skeletal dysplasia at the University of Lausanne in Lausanne, Switzerland. She's certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics.

Knowing the importance of research to provide families hope through discoveries and advances in care, Dr. Lombardo has contributed to professional journals and has been an invited speaker at professional conferences and meetings.

Dr. Lombardo finds joy in helping families find answers to complex questions and sharing their medical journey with them. She's committed to serving families and their goals with excellent clinical care.

When she's not working, Dr. Lombardo enjoys spending as much time as possible photographing wildlife.

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+Education & Training

Board Certification

Pediatrics, American Board of Pediatrics; Medical Genetics and Genomics, American Board of Medical Genetics and Genomics

Medical School / Education

University of Texas Medical Branch, Galveston, TX

Residency

(Pediatrics, Medical Genetics) Cincinnati Children's Hospital, Cincinnati, OH

+Research & Publications

Publications

Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 2019. 179(6): 1010-1014.

Suhrie K, Pajor NM, Ahlfield SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, Wikenheiser-Brokamp KA. Neonatal lung disease associated with TBX4 mutations. J Pediatr. 2019. 206:286-292.

Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Vergano S. Congenital lumbar hernia- a feature of diabetic embryopathy? Am J Med Genet A. 2018.176(11):2243-2249.

Lombardo RC, Porollo A, Cnota JF, Hopkin RJ. Congenital heart disease and aortic arch variants associated with mutation in PHOX2B. Genet Med. 2018. Dec;20(12) 1538-1543.

Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Mohaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmerman MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eu J Med Genet. 2019

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