Jacqueline Hecht

Jacqueline Tauber Hecht

Jacqueline Tauber Hecht is an American medical geneticist.

Dr. Jacqueline Hecht is a board-certified medical geneticist with extensive clinical expertise in common birth defects and gene discovery studies in complex birth defects, including nonsyndromic cleft lip and palate, nonsyndromic clubfoot and single gene disorders.

Her research focuses on understanding the molecular mechanisms that contribute to the pathology that underlies pseudoachondroplasia, a dwarfing condition. 


Biography
  • BS, New York University, Washington Square College
  • MS, Human Genetics & Genetic Counseling, University of Colorado Health Sciences Center
  • 1988 – PhD, Epidemiology, University of Texas School of Public Health
  • Leah L. Lewis Distinguished Chair in Pediatrics, McGovern Medical School
  • Director, Center for Craniofacial Research; Distinguished Teaching Professor at the Department of Pediatrics, McGovern Medical School at UTHealth

Medical Eponyms
Hecht-Scott syndrome (1981)

Rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.

In 1981, Hecht and Scott a Limb deficiency syndrome in half-sibs. The older boy had a more severe phenotype, with terminal transverse defects involving all 4 limbs and congenital heart malformation. He was born with absent hands, absent right foot, and absent left lower leg. He had cardiomegaly and died of cyanotic heart disease at age 11 days. The second child, a girl, had absence of the right hand, oligosyndactyly of the left hand, bilateral bowing and shortening of the tibiae, absence of the left fibula, shortening of the right fibula and oligosyndactyly of the feet. She had no heart defect. The sibs shared a mother. The authors suggested recessive inheritance or gonadal mosaicism for a dominant mutation

[aka Fibular aplasia-tibial campomelia-oligosyndactyly syndrome; FATCO syndrome]


Major Publications

References

Biography

Eponymous terms


eponymictionary CTA

eponym

the person behind the name

Studied at Univerisity of Cambridge - BA MB BChir. British doctor working in emergency medicine in Perth, Australia. Special interests include primary care and emergency medicine.

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.