April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is.
Departments, Centers, & Programs:
Medical Genetics Unit/MGHfC
175 Cambridge Street
Boston, MA 02114
- MD, Thomas Jefferson University
- Residency, Children's Hospital of Pittsburgh
- Fellowship, UCLA Medical Center
- Fellowship, West Penn Hospital
American Board Certifications
- Pediatrics, American Board of Pediatrics
- Clinical Genetics (M.D.), American Board of Medical Genetics
Accepted Insurance Plans
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Dr. Lin is a medical geneticist clinical researcher who has delineated the clinical and molecular aspects of several malformation syndromes in major reviews (CHARGE, BOFS, Sensenbrenner, MMF embryopathy), as well as contributing cases to define the molecular basis of new syndromes (Bosma syndrome/arhinia, Myhre syndrome, macrocephly-capillary malformation, auriculo-condylar syndrome, deletion 2q23.1). Her specialty has been studying the pattern and frequency of cardiac abnormalities, especially Costello syndrome (and other rasopathy syndromes) and Turner syndrome, and most recently, the striking pattern in Myhre syndrome (SMAD4 mutations).
Dr. Lin is a frequent participant in research about birth defects, especially those which are identified through newborn surveillance. These projects have been conducted at the Brigham-Women's Malformation Surveillance Program, and as a consultant to the Massachusetts Center for Birth Defects Prevention. As part of the National Birth Defecs Prevention Study (1997-2013), Dr. Lin has focused on congenital heart defects (CHDs), especially heterotaxy. She is a frequent collaborator in projects studying risk factors for CHDs, classification of CHDs, and currently, is contributing to the analysis of critical CHDs, and CHD prevalence in adults. Through her participation as a consultant at the MA DPH, she assisted in the Zika virus rapid ascertainment program.
(N.B. PubMed lists another, "Lin AE")
- Milunsky J, . Lin A. 2008. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. AJHG 82:1171.
- Lin AE, et al. 2011. Clinical, pathological and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome. AJMG 155:486.
- Lin AE, et al. 2013. Sensenbrenner syndrome (Cranioectodermal Dysplasia). AJMG 161A:2762.
- Lin AE, et al., 2014. Laterality Defects in the National Birth Defects Prevention Study. AJMG 164A:2581
- Lin AE, et al., 2016. Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes. AJMG 170:2617.
- Prakash, S, .... Lin AE. 2019. "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome. AJMG-C 181:36-42.
- Gravholt CH, ....Lin AE, ... Backelajuw PF (19 authors). 2017. Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. EJE 177:G1-70.
- Lin AE, .... Gravholt CH (20 authors). 2019. Recognition and management of adolescents and adults with Turner syndrome. AJMG 179:1987-2033.
- Gripp KL, ... Lin, AE, ...Rauen, KA. et al. (18 authors). 2019. Costello syndrome: Clinical phenotype, genotype and management guidelines. AJMG 179:1725.
- Lin AE, et al. Branchio-Oculo-Facial syndrome (March 2018)
- Gripp KW, Lin AE. Costello syndrome (May 2009)
- Starr LJ, Lindor NM, Lin A. Myhre syndrome (April 2017)
- Aug | 11 | 2017
At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGHfC, she has found her place in the world and learned the skills to thrive as a young adult.
- Patient Story
- Feb | 14 | 2020
Caitlin’s story: One chromosome late to the party, but centralized care helps young woman be fearlessly present in life
Around age 7, Caitlin Sullivan realized she was different. During a sleepover, she realized her friends did not need the nightly growth hormone injections that were so normal and routine to her. Naturally, Caitlin inquired about the mystery with her parents.