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• Achondroplasia

  Achondroplasia in Children

  Achondroplasia is a group of rare genetic (inherited) bone disorders. Achondroplasia is the most common type of what was once called dwarfism, in which the child's arms and legs are short in proportion to body length.
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• Asphyxiating Thoracic Dystrophy (Jeune's Syndrome)
• Bone Abnormality

  Diagnosing Bone Disorders

  Detailed information on diagnostic procedures for bone disorders, including bone densitometry, radionuclide bone scan, and biopsy
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• Brachyolmia
• Brittle Bone

  Osteogenesis Imperfecta in Children

  Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
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• Cartilage Hair Hypoplasia (CHH)
• Diastrophic Dysplasia (DTD)
• Dwarfism
• Hypochondroplasia
• Hypophosphatasia (HPP)
• Limb Deficiency

  Congenital Limb Defect in Children

  A congenital limb defect is when an arm or leg doesn’t form normally as a baby grows in the uterus. The baby is born with the defect.
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• Marfan Syndrome

  Marfan Syndrome in Children

  Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds the body's cells, organs, and other tissue together. Connective tissue is also important in growth and development.
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• Metaphyseal Chondrodysplasia
• Multiple Epiphyseal Dysplasia (MED)
• Osteogenesis Imperfecta

  Osteogenesis Imperfecta in Children

  Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Signs and symptoms may range from mild to severe.
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• Pseudoachondroplasia
• Short Stature

  Growth Problems in Children

  A growth problem means that a child falls either below or above the average range of growth for a child's age, sex, family history, or racial background.
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• Skeletal Dysplasia
• Spondyloepiphyseal Dysplasia (SED)

  Achondroplasia in Children

  Achondroplasia is a group of rare genetic (inherited) bone disorders. Achondroplasia is the most common type of what was once called dwarfism, in which the child's arms and legs are short in proportion to body length.
  Learn more >
• Spondyloepiphyseal Dysplasia Tarda (SEDT)

• Define prenatal ultrasound parameters in the osteochondrodysplasias
• Define the molecular basis of musculoskeletal disorders
• Gene expression patterns in the skeleton
• Disorders of joint development
• Role of cilia in the skeletal dysplasias
• Osteogenesis Imperfecta
• Mouse models of human disease

1. Merrill Amy E, Sarukhanov Anna, Krejci Pavel, Idoni Brian, Camacho Natalia, Estrada Kristine D, Lyons Karen M, Deixler Hannah, Robinson Haynes, Chitayat David, Curry Cynthia J, Lachman Ralph S, Wilcox William R, Krakow Deborah Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. American journal of human genetics. 2012; 90(3): 550-7.
2. Tompson Stuart W, Faqeih Eissa Ali, Ala-Kokko Leena, Hecht Jacqueline T, Miki Rika, Funari Tara, Funari Vincent A, Nevarez Lisette, Krakow Deborah, Cohn Daniel H Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. American journal of medical genetics. Part A. 2012; 158A(2): 309-14.
3. Lee Hane, Graham John M, Rimoin David L, Lachman Ralph S, Krejci Pavel, Tompson Stuart W, Nelson Stanley F, Krakow Deborah, Cohn Daniel H Exome sequencing identifies PDE4D mutations in acrodysostosis. American journal of human genetics. 2012; 90(4): 746-51.
4. Nemec Stefan F, Cohn Daniel H, Krakow Deborah, Funari Vincent A, Rimoin David L, Lachman Ralph S The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatric radiology. 2012; 42(1): 15-23.
5. Funari Vincent A, Krakow Deborah, Nevarez Lisette, Chen Zugen, Funari Tara L, Vatanavicharn Nithiwat, Wilcox William R, Rimoin David L, Nelson Stanley F, Cohn Daniel H BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. American journal of human genetics. 2010; 87(4): 532-7.
6. Camacho Natalia, Krakow Deborah, Johnykutty Sharlin, Katzman Philip J, Pepkowitz Samuel, Vriens Joris, Nilius Bernd, Boyce Brendan F, Cohn Daniel H Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. American journal of medical genetics. Part A. 2010; 152A(5): 1169-77.
7. Tompson Stuart W, Bacino Carlos A, Safina Nicole P, Bober Michael B, Proud Virginia K, Funari Tara, Wangler Michael F, Nevarez Lisette, Ala-Kokko Leena, Wilcox William R, Eyre David R, Krakow Deborah, Cohn Daniel H Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. American journal of human genetics. 2010; 87(5): 708-12.
8. Krakow Deborah, Rimoin David L The skeletal dysplasias. Genetics in medicine : official journal of the American College of Medical Genetics. 2010; 12(6): 327-41.
9. Merrill Amy E, Merriman Barry, Farrington-Rock Claire, Camacho Natalia, Sebald Eiman T, Funari Vincent A, Schibler Matthew J, Firestein Marc H, Cohn Zachary A, Priore Mary Ann, Thompson Alicia K, Rimoin David L, Nelson Stanley F, Cohn Daniel H, Krakow Deborah Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. American journal of human genetics. 2009; 84(4): 542-9.
10. Krakow Deborah, Lachman Ralph S, Rimoin David L Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genetics in medicine : official journal of the American College of Medical Genetics. 2009; 11(2): 127-33.
11. Krakow Deborah, Vriens Joris, Camacho Natalia, Luong Phi, Deixler Hannah, Funari Tara L, Bacino Carlos A, Irons Mira B, Holm Ingrid A, Sadler Laurie, Okenfuss Ericka B, Janssens Annelies, Voets Thomas, Rimoin David L, Lachman Ralph S, Nilius Bernd, Cohn Daniel H Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. American journal of human genetics. 2009; 84(3): 307-15.
12. Farrington-Rock Claire, Kirilova Veneta, Dillard-Telm Lisa, Borowsky Alexander D, Chalk Sara, Rock Matthew J, Cohn Daniel H, Krakow Deborah Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Human molecular genetics. 2008; 17(5): 631-41.
13. Krakow Deborah, Alanay Yasemin, Rimoin Lauren P, Lin Victoria, Wilcox William R, Lachman Ralph S, Rimoin David L Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. American journal of medical genetics. Part A. 2008; 146A(15): 1917-24.
14. Brunetti-Pierri Nicola, Esposito Valentina, De Brasi Daniele, Mattiacci Dario Maria, Krakow Deborah, Lee Brendan, Salerno Mariacarolina Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. American journal of medical genetics. Part A. 2008; 146A(9): 1230-3.
15. Alanay Yasemin, Krakow Deborah, Rimoin David L, Lachman Ralph S Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006). American journal of medical genetics. Part A. 2007; 143A(11): 1159-68.
16. Funari Vincent A, Day Allen, Krakow Deborah, Cohn Zachary A, Chen Zugen, Nelson Stanley F, Cohn Daniel H Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression. BMC genomics. 2007; 8(4): 165.
17. Krejci Pavel, Krakow Deborah, Mekikian Pertchoui B, Wilcox William R Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage. Pediatric research. 2007; 61(3): 267-72.
18. Miller Michelle, Krakow Deborah, Pepkowitz Samuel Polyvalvular disease in a fetus with normal chromosomes. Congenital heart disease. 2007; 2(3): 214-7.
19. Rimoin David L, Cohn Daniel, Krakow Deborah, Wilcox William, Lachman Ralph S, Alanay Yasemin The skeletal dysplasias: clinical-molecular correlations. Annals of the New York Academy of Sciences. 2007; 1117(6): 302-9.
20. Farrington-Rock Claire, Firestein Marc H, Bicknell Louise S, Superti-Furga Andrea, Bacino Carlos A, Cormier-Daire Valerie, Le Merrer Martine, Baumann Clarisse, Roume Joelle, Rump Patrick, Verheij Joke B G M, Sweeney Elizabeth, Rimoin David L, Lachman Ralph S, Robertson Stephen P, Cohn Daniel H, Krakow Deborah Mutations in two regions of FLNB result in atelosteogenesis I and III. Human mutation. 2006; 27(7): 705-10.
21. Steiner C, Ehtesham N, Taylor K D, Sebald E, Cantor R, King L M, Guo X, Hang T, Hu M S, Cui J-R, Friedman B, Norato D, Allanson J, Honeywell C, Mettler G, Field F, Lachman R, Cohn D H, Krakow D A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. Journal of medical genetics. 2004; 41(4): 266-9.
22. Pogue Robert, Sebald Eiman, King Lily, Kronstadt Erik, Krakow Deborah, Cohn Daniel H A transcriptional profile of human fetal cartilage. Matrix biology : journal of the International Society for Matrix Biology. 2004; 23(5): 299-307.
23. Krakow Deborah, Robertson Stephen P, King Lily M, Morgan Timothy, Sebald Eiman T, Bertolotto Cristina, Wachsmann-Hogiu Sebastian, Acuna Dora, Shapiro Sandor S, Takafuta Toshiro, Aftimos Salim, Kim Chong Ae, Firth Helen, Steiner Carlos E, Cormier-Daire Valerie, Superti-Furga Andrea, Bonafe Luisa, Graham John M, Grix Arthur, Bacino Carlos A, Allanson Judith, Bialer Martin G, Lachman Ralph S, Rimoin David L, Cohn Daniel H Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nature genetics. 2004; 36(4): 405-10.
24. Krakow Deborah, Sebald Eiman T, Pogue Robert, Rimoin Lauren P, King Lily, Cohn Daniel H Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias. Molecular genetics and metabolism. 2003; 79(1): 34-42.
25. Sebald Eiman, Krueger Richard, King Lily M, Cohn Daniel H, Krakow Deborah Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library.Gene. 2003; 311(5): 147-51.
26. Cohn Daniel H, Ehtesham Nadia, Krakow Deborah, Unger Sheila, Shanske Alan, Reinker Kent, Powell Berkley R, Rimoin David L Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. American journal of human genetics. 2003; 72(2): 419-28.

Link to complete list of publications >

• 2018 Los Angeles Magazine Top Doctors
• Cedars-Sinai Medical Center, Los Angeles, California
• Harbor-UCLA Medical Center, Torrance, CA
• UCLA Intercampus Medical Genetics Training Program, Los Angeles, CA
• Winnick Family Scholar Awardee, 2007-2008
• AAGOF Travel Award, 2004
• Golden Apple Teaching Award, 2003-2004
• Society of Perinatal Research, 2003
• Golden Apple Teaching Award, 2001-2002
• Reproductive Scientist Development Award, NIH, 1995-1997
• Cigna Award for Outstanding Senior House Officer, 1988
• Leo Rigler Award for Outstanding House Officer, 1988
• Administrative Chief Resident - Cedars-Sinai Medical Center, 1987-1988
• Magna Cum Laude, Arizona State University, 1979
• Honor's Program, Arizona State University, 1976-1979
• Dean's List Arizona State University, 1975-1979